Clinical examination of newborn
Check list V.1.0
Dr. Ahmad Habibur Rahim
Special thanks to-
Dr. Faria yasmin
1
Contents
General examination ....................................................................................................................... 2
Clinical Examination of Face.......................................................................................................... 4
Anthropometry Examination Sequence .......................................................................................... 5
Clinical Examination of Vitals........................................................................................................ 6
IDM baby........................................................................................................................................ 7
Examination of Disorders of Sex Development (DSD).................................................................. 7
Examination of Jaundice................................................................................................................. 8
Clinical Examination of TORCH Infections................................................................................... 9
Examination of a Syndromic Baby................................................................................................11
Abdomen And relevants:............................................................................................................... 14
Examination of Umbilicus............................................................................................................ 15
Omphalocele ................................................................................................................................. 16
Examination of Gastroschisis ....................................................................................................... 17
Clinical Examination of Hernia/Hydrocele .................................................................................. 18
Examination of Hydronephrosis ................................................................................................... 19
Chest and relevant......................................................................................................................... 20
Adequacy of Mechanical Ventilator.............................................................................................. 21
CPAP Adequacy............................................................................................................................ 23
Examination of Back and relevant................................................................................................ 25
Examination of head and relevant (Birth Injury).......................................................................... 26
Examination of Cystic Hygroma .................................................................................................. 28
Neural Tube Defect and Hydrocephalus....................................................................................... 28
Primitive reflexes.......................................................................................................................... 29
Examination of Cranial Nerves of Newborn ................................................................................ 30
Motor examination of Lower limb................................................................................................ 31
Tone assesment and relevant......................................................................................................... 32
Senosry system.............................................................................................................................. 33
Examination of Musculoskeletal System of Lower Limb ............................................................ 35
Examination of Skin with Rash .................................................................................................... 36
Examination of Eyes..................................................................................................................... 37
Newborn Ballard scoring .............................................................................................................. 39
2
....................................................................................................................................................... 39
Differentiation of Syndromes by System...................................................................................... 40
General examination
Salam, Intro, permission
Mention wash hands> hexisol rub
Hexisol rub of instruments
Check all support ABCDE
• Expose properly
• Overall look
• Posture, color, movement,activity
• visible congenital anomaly. Birth injury
• Term, Preterm, LBW, LGA
• Sign of respiratory distress
• Count Respiratory rate (ask watch) 15 sec
• Heart rate (locate apex beat) 10 sec
• Heart sound in all 4 areas
• Breath sound in all 6 areas
• Bowel sound 10 sec
Head
• OFC
• Anterior and posterior fontanells
• Caput/hematoma
Fore head: Jaundice (Daylight)
Eyes: eyelid, conjuctive, cataract, pupil, hemorrhage, epicanthic fold (Torch)
Nose: Nasal flaring, atresia (Torch)
Oral cavity: cleft lip, palate, toungue tie, cyanosis, micrognathia, oral thrush, frothing
(Torch)
Ear: deformity, pre auricular tag, Hairy Ear, recoiling (without torch)
3
• Rooting reflex
• Sucking reflex (ask to wash hand)
Neck
• sternocleido mastoid tumor, thyroglossal cyst, clavicle
• Clavicle fracture, short neck, web neck, torticolis,
• Birth trauma
Chest:
• CRT for 5 seconds
• Jaundice
• Breast Bud
Upper limb:
• Any defromity, fracture, syndactyle, Erbs palsy, Klumkes Palsy
• Radial pulses, brachial, brachio radial, brachio femoral
• Hands, digits, palmar grasp, palmar crease, anemia, jaundice, cyanosis
Abdomen:
• Umbilicus, Jaundice,
• Abdominal distension, visible peristalsis, visible mass, gastroschisis, Omphalocele
Inguinal region: Genitalia, descended testis, penis, vulva, clitoris
Hip: Ortolani, Barlow, anal patency
• Thigh, jaundice
• Leg: jaundice, poplitial pulse
• Feet: finger, plater grasp, crease,
Back and spine
• Anal patency,
• Moro reflex
• Cover the baby again
• Ask for Weight, Length, NIBP, CBG and plot it into chart
• And New ballard scoring
• Give thanks and salam
Relevant:
If Jaundice:
• Liver and spleen,
4
• Tone and Jerks
Clinical Examination of Face
Inspection
• Symmetry
• Facial Expression
• Visible Deformities
• Skin (rashes, lesions, scars)
Head
• OFC
• Anterior and posterior fontanells
• Caput/hematoma
Fore head: Jaundice (Daylight)
Eyes: eyelid, conjuctive, cataract, pupil, hemorrhage, epicanthic fold (Torch)
Nose: Nasal flaring, atresia (Torch)
Oral cavity: cleft lip, palate, toungue tie, cyanosis, micrognathia, oral thrush, frothing
(Torch)
Ear: deformity, pre auricular tag, Hairy Ear, recoiling (without torch)
• Rooting reflex
• Sucking reflex (ask to wash hand)
• Features of facial nerve, trigeminal nerve, occular nerve palsy
Palpation
• Temperature
• Tenderness
• Muscle Tone
• Masses or Swellings
• Parotid Gland Enlargement
• Lymph Nodes (submandibular, preauricular, postauricular)
Relevant Examinations
• Head: OFC, Shape, Size, Fontanelles
• Cyanosis
• Temperature
5
• Oral Cavity: Mucous Membranes, Tongue
• Capillary Refill Time (CRT)
• Vitals
• Hand: Pulses
• Abdomen: Liver and Spleen
• Foot: Edema
• Measure BP
• Check for Shock and Heart Failure
• Features of sepsis
• Neurological Examination: Cranial Nerve Function (especially CN V, VII)
• Eyes: Pupil Size, Reaction to Light, Conjunctiva
• Ears: Hearing Test, Discharge
• Nose: Nasal Patency, Discharge
• Mouth: Teeth, Gums, Tongue, Palate
Anthropometry Examination Sequence
Inspection
• Salam, Introduction, Permission
• Mention Washing Hands > Hexisol Rub
• Hexisol Rub of Instruments
• Check All Support ABCDE
Measurements
• Weight
• Length
• Head Circumference
Relevant Examinations
• Head: Shape, Size, Fontanelles
• Cyanosis
• Temperature
• Oral Cavity: Mucous Membranes, tongue position
• Capillary Refill Time (CRT)
• Vitals
• Hand: Pulses, Palmar Grasp
• Foot: Edema, Plantar Grasp
• Measure BP
• Check for Signs of Shock
• Heart and Lung Auscultation
• Neurological Examination
o Reflexes (Moro, rooting, sucking in infants)
6
• Abdominal Examination
o Palpate for organomegaly
Clinical Examination of Vitals
Inspection
• Salam, Introduction, Permission
• Mention Washing Hands > Hexisol Rub
• Hexisol Rub of Instruments
• Check All Support ABCDE
Measuring Vitals
• Temperature
o Measure using a digital or mercury thermometer. 3 min
• Pulse
o Palpate radial or brachial artery.
o Count for 30 seconds.
o Assess rate, rhythm, and volume.
• Respiratory Rate
o Observe chest or abdomen movements.
o Count breaths for 30 seconds.
o Assess for regularity, depth, and effort.
• Blood Pressure
o Use a sphygmomanometer NIBP
o Ensure proper cuff size and position.
o Measure systolic and diastolic pressure.
• Oxygen Saturation (SpO2)
o Use a pulse oximeter.
o Place on finger, toe, or earlobe.
o Read the percentage of oxygen saturation.
• Capillary Refill Time (CRT)
o Press on the nail bed until it turns white.
o Release and count the seconds until color returns.
o Normal CRT is less than 2 seconds.
Relevant Examinations
• Head: Shape, Size, Fontanelles
• Cyanosis: Lips, Nail Beds, Extremities
• Temperature: Check for any abnormal body temperature
• Oral Cavity: Inspect mucous membranes for hydration status
• CRT: Check on extremities to assess perfusion
• Hand: Pulses, palmar grasp (in infants)
7
• Abdomen: Liver and spleen size (organomegaly)
• Foot: Edema, plantar grasp (in infants)
• Measure BP: Regular intervals
• Check for Signs of Shock: Tachycardia, hypotension, cold extremities
• Heart and Lung Auscultation: Murmurs, breath sounds
IDM baby
• General examination
• Chest hairy pina
• Plumpy appearance
• Macrosomia
• Check for congenital anomalies
Examination of Disorders of Sex Development (DSD)
Inspection
• External Genitalia:
o Ambiguous genitalia
o Clitoral enlargement or micropenis
o Labial fusion or bifid scrotum
o Urogenital sinus or hypospadias
• Skin:
o Hyperpigmentation
o Rashes
• Secondary Sexual Characteristics (Not in neonates)
Palpation
• Temperature
• Tenderness
• Gonadal Palpation:
o Presence or absence of testes in scrotum or inguinal canal
o Ovaries, if palpable
• Consistency and Size of Gonads
• Inguinal Region:
o Hernias or masses
• Abdomen: (orgaomegaly in IEM)
o Organomegaly (liver, spleen)
o Masses
Relevant Examinations
8
• Head: OFC, Shape, Size, Fontanelles (in infants)
• Cyanosis
• Temperature
• Oral Cavity: Mucous Membranes
• Capillary Refill Time (CRT)
• Vitals (History vomiting, dehydration)
• Hand: Pulses, Palmar Grasp (in infants)
• Foot: Edema, Plantar Grasp (in infants)
• Measure BP
• Check for Signs of Shock
• Heart and Lung Auscultation
Examination of Jaundice
Inspection
• Posture
• Color
o Yellowing of the skin
o Yellowing of the sclera (icterus)
• Extent of Jaundice
o Face, trunk, limbs
• Skin Rash or Lesions
• Hydration Status
o Dry mucous membranes
o Sunken eyes
• Visible Signs of Liver Disease
• Hydrops fetalis
Palpation
• Temperature
• Tenderness
o Abdominal tenderness
o Right upper quadrant tenderness
• Liver Size
o Hepatomegaly (enlarged liver)
o Consistency of liver
• Spleen Size
o Splenomegaly (enlarged spleen)
• Ascites
o Presence of abdominal fluid
Relevant Examinations
9
• Head: OFC, Shape, Size, Fontanelles (in infants)
• Anemia
• Temperature
• Oral Cavity: Mucous Membranes
• Capillary Refill Time (CRT)
• Vitals
• Hand: Pulses, Palmar Grasp (in infants)
• Foot: Edema, Plantar Grasp (in infants)
• Measure BP
• Check for Signs of Shock
• Heart and Lung Auscultation
• Neurological Examination
o Tone, Jerks, Lethargy, Irritability
o Highpitched cry
Clinical Examination of TORCH Infections
General Inspection
• Posture
• Color: Observe for pallor, cyanosis, jaundice
• General Appearance: Note any dysmorphic features or growth retardation
Systemic Examination
1. Toxoplasmosis
• Head: Check for hydrocephalus, microcephaly, or macrocephaly
• Eyes: Look for chorioretinitis, cataracts
• Neurological: Assess for seizures, hypotonia, or spasticity
• Skin: Observe for petechiae, purpura
Other (Syphilis, Varicella, Parvovirus B19)
Syphilis:
• Skin: Look for maculopapular rash, particularly on palms and soles
• Mouth: Check for mucous patches
• Bone: Palpate for bony tenderness (periostitis)
• Neurological: Assess for signs of neurosyphilis (e.g., irritability, seizures)
Varicella (Chickenpox):
• Skin: Check for vesicular rash
• Respiratory: Assess for signs of pneumonia
10
Parvovirus B19:
• Skin:
o Look for slapped cheek appearance, erythema infectiosum
• Hematological:
o Check for anemia
Rubella
• Head: Check for microcephaly
• Eyes: Look for cataracts, retinopathy
• Cardiac: Auscultate for murmurs indicating congenital heart disease (e.g., PDA,
pulmonary artery stenosis)
• Skin: Observe for blueberry muffin rash
Cytomegalovirus (CMV)
• Head: Check for microcephaly, intracranial calcifications
• Eyes: Look for chorioretinitis
• Hepatosplenomegaly: Palpate for enlarged liver and spleen
• Skin: Observe for petechiae, purpura
Herpes Simplex Virus (HSV)
• Skin: Look for vesicular lesions, especially around the mouth and eyes
• Mouth: Check for oral lesions
• Neurological: Assess for signs of encephalitis (e.g., lethargy, seizures)
• Eyes: Look for keratoconjunctivitis
Neurological Examination
• Muscle Tone: Assess for hypotonia or hypertonia
• Reflexes: Check primitive reflexes (Moro, rooting, sucking)
• Developmental Milestones: Assess for delays in motor, social, and cognitive development
• Cranial Nerves: Evaluate function, especially vision (optic nerve) and hearing (auditory
nerve)
Cardiac Examination
• Heart Sounds: Auscultate for murmurs indicating congenital heart disease
• Pulse: Check peripheral pulses for symmetry and strength
11
Respiratory Examination
• Breathing Pattern: Observe for respiratory distress
• Lung Sounds: Auscultate for crackles or wheezes
• Gastrointestinal Examination
• Abdominal Examination: Check for hepatosplenomegaly, abdominal distention
Relevant Examinations
• Head: OFC, Shape, Size, Fontanelles
• Eyes: Inspect for signs of chorioretinitis, cataracts
• Ears: Hearing assessment
• Skin: Look for rashes, petechiae, vesicles
• Mouth: Check for oral lesions
• Capillary Refill Time (CRT)
• Vitals: Temperature, pulse, respiratory rate, blood pressure
• Hand: Pulses, Palmar Grasp
• Foot: Edema, Plantar Grasp
• Measure BP
• Check for Signs of Shock
• Heart and Lung Auscultation
Examination of a Syndromic Baby
Inspection
• Posture
• Color
• Facial Dysmorphism:
o Flattened nasal bridge
o Upward slanting palpebral fissures
o Epicanthal folds
o Lowset ears
o Micrognathia
o Widespaced eyes (hypertelorism)
• Skin:
o Birthmarks, rashes, pigmentation
o Cafeaulait spots
12
• Hands and Feet:
o Single transverse palmar crease
o Polydactyly, syndactyly
o Clinodactyly
• General Appearance:
o Small stature
o Abnormal body proportions
Head Examination
• Size and Shape: Macrocephaly, microcephaly
• Fontanelles: Large or small fontanelles
• Sutures: Wide or prematurely fused sutures
• Eyes: Cataracts, Brushfield spots
• Ears: Shape, size, position
Chest Examination
• Shape: Barrelshaped chest, pectus excavatum or carinatum
• Respiratory Effort: Signs of distress
• Auscultation: Heart murmurs
• Breath sounds
Abdominal Examination
• Size: Distended abdomen
• Palpation: Organomegaly (liver, spleen)
• Umbilical Region: Hernia, abnormal positioning
Genital Examination
• Ambiguous genitalia
• Hypospadias, cryptorchidism
• Labial fusion, clitoromegaly
Extremities Examination
• Posture: Contractures, deformities
• Reflexes: Presence and strength
• Palmar and Plantar Grasp
Neurological Examination
• Muscle Tone: Hypotonia, hypertonia
• Reflexes: Moro, rooting, sucking
13
• Developmental Milestones: Assess for delays
• Cranial Nerves: Function assessment
14
Abdomen And relevants:
• Salam, Intro, permission
• Mention wash hands> hexisol rub
• Hexisol rub of instruments
• Check all support ABCDE
• Expose the baby properly
Inspection
• Whole abdomen
• Umbilicus
• Smell the umbilicus
Palpation
• Superficial palpation: look at the face during palpation
• Deep palpation: left kidney, spleen, liver, right kidney
• If organomegaly measure, feel margin, consitancy, left lobe, Upper border of liver
dullness
• Bladder
• Genitalia
• Anus
Auscultate: Bowel sound for 15 sec
Relevant:
• OFC
• Anterior fontanells
• Dysmorphism
• Skin survey
• Eyes: cataract, choreoretinitis
• Rooting, sucking
• Heart (heart reate, Murmur)
• Lung (respiratory rate)
• Jaundice
• Pulses
• Hand: pallor, Jaundice, palmar grasp
• Leg: jaundcie, Plater grasp
• Oedema
• Moro reflex
• Ask for Weight, Length, BP, CBG and plot it into chart
15
DD:
• Sepsis
• TORCH
• IEM
• Hemolytic disease of newborn
Examination of Umbilicus
Inspection
• Condition of Umbilical Stump: Dry, moist, or discharge
• Presence of granuloma, polyp, or hernia
• Surrounding Skin: Redness, swelling, signs of infection
• Abnormalities: Umbilical hernia, omphalitis, bleeding
• Shape and Size: Inverted, protruding, normal
• Odor: Any foul smell indicating infection
Palpation
• Temperature
• Tenderness
• Consistency of Umbilical Stump: Soft, firm
• Surrounding Area: Assess for warmth, swelling
• Presence of Masses: Check for umbilical hernia
Functional Tests
• Assess Reducibility: If an umbilical hernia is present, check if it can be reduced
• Check for Discharge: Color, amount, consistency
Relevant Examinations
• Features of sepsis
• Bleeding disorder
• vitals
• Organomegaly
• Heart and Lung Auscultation
16
Omphalocele
Inspection:
• Smell of the umbilicus
• Bandage (ask to remove)
• Flanks
• Sorrounding skin
Palpation:
• Local examination
Temperature
• Skin
• Color
• Content
• Organ palpation
• Genitalia
• Anus
• Bowel sound
Relevant:
• Head to toe: dysmophism
• Oral cavity: Cyanosis, Tongue
• Chest: Murmur
• Lungs: Auscultate
• Hand
• Back and spine for anomaly
• Features of DOWN syndrome
17
Examination of Gastroschisis
Inspection
• Protruding Intestines
o Location of defect (usually to the right of the umbilicus)
o Absence of covering membrane
• Appearance of Exposed Bowel
o Color, edema, injury
• Signs of Inflammation or Infection
o Redness, swelling
• Hydration Status
o Dry mucous membranes, sunken eyes
Palpation
• Temperature
• Tenderness
o Consistency of Protruding Bowel: Assess for firmness or softness
o Abdominal Examination: Palpate the surrounding abdominal wall for defects
o Presence of Other Anomalies: Check for any associated anomalies in other
systems
Relevant Examinations
• Head: OFC, Shape, Size, Fontanelles (in infants)
• Cyanosis
• Temperature
• Oral Cavity: Mucous Membranes
• Capillary Refill Time (CRT)
• Vitals
• Measure BP
• Check for Signs of Shock
• Heart and Lung Auscultation
• Hydration Status
• Skin turgor, urine output
18
Clinical Examination of Hernia/Hydrocele
• Salam, Introduction, Permission
• Mention Washing Hands > Hexisol Rub
• Hexisol Rub of Instruments
• Check All Support ABCDE
Inspection
• Swelling in Inguinal or Scrotal Area
• Size and Shape of Swelling
• Symmetry (Unilateral or Bilateral)
• Visible Pulsation
• Reducibility of Swelling
Palpation
• Temperature
• Tenderness
• Consistency (Soft, Firm, Fluctuant)
• Fluctuation Test
• Transillumination Test
• Inguinal Canal: Palpate for Hernial Sac
• Impulse on Coughing (Cough Impulse)
• Reducibility of Hernia
• Position of Testes
Relevant Examinations
• Vitals
• Examine Opposite Side for Comparison
• Associated congenital anomalies
19
Examination of Hydronephrosis
Inspection
• Abdominal Distention
• Visible Masses or Swelling
• Flank Pain or Tenderness
• Signs of Urinary Retention
• Hydration Status
• Dry mucous membranes, sunken eyes
• Obseve Urinary flow
• Abdominal distension
• Features of urinary ascites
Palpation
• Temperature
• Tenderness
• Abdominal Examination
o Palpate for masses or enlarged kidneys
o Assess for firmness or softness of any masses
o Right and left flank areas
• Bladder Palpation
o Assess for bladder distention
• Presence of Other Anomalies
o Check for any associated anomalies in other systems
Relevant Examinations
• Head: OFC, Shape, Size, Fontanelles (in infants)
• Vitals
• Edema
• Measure BP
• Check for Signs of Shock
• Heart and Lung Auscultation
• Hydration Status: Skin turgor, urine output
• Genital Examination
• Look for any associated abnormalities
• Test for posterior urethral vulve
20
Chest and relevant:
DD
• Pneumonia
• Sepsis
• CHD
• Heart failure
Inspection
• Salam, Intro, permission
• Mention wash hands> hexisol rub
• Hexisol rub of instruments
• Check all support ABCDE
• Posture, color
• Sign of respiratory distress
• Shape of the chest
• Visible apex beat
• Pulsation
• Hear for grunting
• Count respiratory rate
• Locate apex beat
• And count heart rate
• Auscultate heart lung
• Auscultate the back?
Relevant:
• Cyanosis
• Temperature
• Oral cavity
• Rooting
• Sucking
• CRT
• Vitals
• Hand: Pulses, palmar grasp
• Abdomen: Liver and spleen
• Foot: edema, planter graps
• Measure BP
• Check for shock and heart failure
21
Adequacy of Mechanical Ventilator
• Salam, Introduction, Permission
• Mention Washing Hands > Hexisol Rub
• Hexisol Rub of Instruments
• Check All Support ABCDE
Inspection: (baby, support, MV, chest)
• Baby: (from 2 sides)
• Color (pallor, cyanosis)
• Activity
• Respiratory distress (nasal flaring, grunting)
• Chest movement
• Support:
▪ IVF, inotropes, blood transfusion
▪ Thermal support
▪ Pulse oximeter (HR, saturation)
▪ OG tube
▪ Umbilical stamp
ET tube:
• Size
• Position
Mechanical Ventilator setup:
• Mode, PIP, PEEP, rate, FiO2, Ti, I:E ratio
• Volume targeted, pressure support
• Selfrespiration
Mechanical Ventilator machine examination
• Ventilator Settings Check
• Oxygen Source
• Tubing Connections
• Humidifier
• Alarm Settings
• Tidal volume (ask for weight; weight is shown in some MV)
• Selfbreath
• Graph (with permission if only observation)
▪ Loop: flow, pressure, volume
22
▪ Curve: pressurevolume, flowvolume.
Permission:
I want to see the MV graphics for assessing machine/ patient condition
I want to count respiratory rate & examine chest for assessing respiratory condition
Examination with relevant: (respiratory, hemodynamic stability)
Chest:
A. Count respiratory rate, Apex beat locate & heart rate
B. Auscultate chest for air entry
C. CRT
D. Breast bud for maturity
E. Auscultate back
Hand: pulse volume for shock.
Want to see Chest X ray, Echocardiography
23
CPAPAdequacy
Inspection:
• Support
• SPO2: if SPO2 >95% then say, want to decrease setup/ FiO2.
• CPAP setup
• Inspect the baby from both sides to see the chest movement
• Activity of the baby
Hear: grunting
Face:
▪ Color
▪ Cyanosis (by TORCH)
▪ To see nasal flaring, I want to remove the nasal interface
▪ See any nasal injury
▪ OG tube: check if open/not.
Chest:
• Inspection: upper & lower chest indrawing
• Should do: Silverman or Downe’s score
• RR counting
• HR counting
• Apex beat
• Auscultate chest, air entry, both front & back.
• Murmur
• CRT
• Breast bud to see the diagnosis (help for diagnosis)
Hand: pulse volume, palmer grasp
Abdomen:
• Distended or not (exclude CPAP belly)
• May ask for baseline Abdominal girth
CPAP:
• Nasal interface (appropriate size, attachment, take permission to see injury)
• Head cap
• Circuit (intact, inspiratory & expiratory limb)
• Bubbling
• Waterlevel
• Water in circuit
24
• Humidifier
• Humidifier temperature
• Flow meter
• Blender
• Oxygen connection
• Set up
Ask for BP, Urine output, ABG, Chest X ray
25
Examination of Back and relevant
Look for bandage (ask to remove for proper examination)
Inspection:
Head
Eyes
Gross congenital anomaly
Lower limb: Posture, paucity of movement, clubfoot
Palpation:
• Whole spine
• Then watch the swelling
• Size
• Site
• Leaking
• Denuded skin
• Fecal incontinence
• Dribbling of urine
• Identifylocation and illiac crest
• Measure swelling
• Temperature
• Fluctuation
• Consistency
• Tenderness
• Transillumination
Relevant:
• Anal wink
• Lower limb tone
• Jerk
• Reflexes
• Clonus
• Abdomen: kidney for hydronephrosis
• Urinary baldder: for retention
• OFC
26
• Anterior fontanells
• Upper limb
• Tone
• Reflexes
• Jerk
• Heart: auscultation
Examination of head and relevant (Birth Injury)
Inspection
• Posture
• Alertness
• Active movement/ reduced movement in any limb
• Color
o Skin: Bruising, petechiae, lacerations
o Subcutaneous fat necrosis
• Head:
o Caput succedaneum
o Cephalohematoma
o Skull fractures
• Face:
o Facial asymmetry (nerve injury)
o Eye: subconjunctival hemorrhage
• Neck:
o Swelling (sternocleidomastoid hematoma)
• Limbs:
o Brachial plexus injury signs (Erb’s palsy, Klumpke’s palsy)
o Fractures (clavicle, humerus, femur)
• Abdomen:
o Distention
o Bruising
Palpation
• Temperature
• Tenderness
• Consistency of Swellings
• Head:
o Fontanelles (bulging, sunken)
o Sutures (wide, overlapping)
27
• Neck:
o Palpate for masses or hematomas
• Limbs:
o Check for crepitus or abnormal movement (fractures)
o Erbs palsy: Klumkes paralysis
o Muscle tone and reflexes
• Abdomen:
o Organomegaly (liver, spleen)
o Abdominal wall integrity
o Abdomen: Umbilical bleeding
Neurological Examination
• Cranial Nerves:
o Facial nerve function
o Sucking and rooting reflexes
• Muscle Tone:
o Hypotonia, hypertonia
• Reflexes:
o Moro, grasp, stepping reflexes
Local injury examination:
• Size of the Swelling
• Shape
• Site
• Temperature
• Tenderness
• Consistancy
• Extension
• Fluctuation
• Transillumination
Relevant Examinations
• Head: OFC, Shape, Size, Fontanelles
• Vitals
• features of shock
• Other birth injury
• Shock
• Anemia
• Jaundice
• Heart and Lung Auscultation
• Respiratory Assessment
• Reflexes
28
• Petechial rash over face
Examination of Cystic Hygroma
Inspection
• Location of Mass
• Size and Shape of Mass
• Surface Characteristics: Smooth, irregular
• Skin Changes
• Overlying skin discoloration, ulceration
• Visible Pulsations
Palpation
• Temperature
• Tenderness
• Consistency: Soft, cystic, or fluctuant
• Mobility: Freely mobile or fixed
• Transillumination Test:
• Assess for Fluctuation
• Check for Associated Lymphadenopathy
Relevant Examinations
• Vitals
• Assess for any signs of airway obstruction or respiratory distress
• Features of Turner syndrome, Down syndrome, Noonan syndrome
Neural Tube Defect and Hydrocephalus
Inspection
• General looking
• Head size, eyes, dysmorphisom, gross congenital anomaly
• VP Shunt, Scalp vein
• Temperature in fore head
• Suture
• Fontanel anterior and posterior fontanels
• Occiput: Flat/ Prominent
• OFC
• Transillumination
29
• Auscultation over Anterior fontanelles
Relevant:
• Eyes
• Face Downes
• Back
• Anus
• Tone: Upper and Lower limb
• Heart – murmur
• Hepatosplenomegaly
• Sign of peritonitis
• BP
• Reflexes
Primitive reflexes
• Gabellar tap
• Rooting
• Sucking
• Neck: ATNR, NRR
• Palmar Grasp
• Babkins sign
• Planter grasp
• Cross extension adduction
• Placing. Stepping
• Galant
• Moro reflex
30
Examination of Cranial Nerves of Newborn
Inspection:
• Facial asymmetry
• Angle of mouth deviation
• Nasolabial fold
• Wrinkling over forehead
• Listen for stridor, hoarseness or aphony during crying
• Eyes:
• ▪ Squint, Nystagmus, ptosis
• ▪ Spontaneous eye blinking
• ▪ Persistent eye opening/ incomplete closure
Examination:
• Light reflex to evaluate II & III
• Eye Movement to evaluate Ⅲ, Ⅳ& Ⅵ
• Rooting to evaluate Ⅴ & Ⅶ
• Sucking & swallowing to evaluate Ⅴ, Ⅶ, Ⅸ, Ⅹ & Ⅻ
• Ring bell or clap hand from 1 foot from head to evaluate cochlear part of Ⅷ
• Moro reflex & Doll's eye maneuver (Oculo-cephalic reflex) to evaluate vestibular part-
Ⅷ
• Head flexion & Lateral rotation to evaluate Ⅺ
Want to do following:
✓ Offer Mother's milk to see Olfactory nerve (I)
✓ Corneal reflex to evaluate Ⅴ & Ⅶ
✓ NG tube administration to produce gag reflex and also to see Ⅴ, Ⅶ, Ⅸ, Ⅹ & Ⅻ.
31
Motor examination of Lower limb
DD:
• Spina Bifida
• TORCH infection
• Salam, Introduction, Permission
• Mention Washing Hands > Hexisol Rub
• Hexisol Rub of Instruments
• Check All Support ABCDE
Inspection
• Position
• Movement
• Symmetry
• Limb length discripency
• Deformity
• Congenital anomaly: sydactyle, clubfoot, VACTERL
• Exessive skin fold: DDH
Palpation
• Temperature
• Tenderness
• Muscle Bulk
• Tone (palpating the muscles, Passive movement, Popliteal angle, Heel to ear maneuver,
Placing, Stepping)
• Strength
• Jerks (Knee, ankle joint)
• Clonus
• Ortolani and Barlow if musculo skeletal?
Relevant:
• Tone and Jerk of upper limb
• Truncal tone
• Head examination (Fontanells, OFC)
• Hepato splenomegaly
• Kidney
• Urinary Bladder
• Reflexes, Vitals
32
Tone assesment and relevant
Inspection:
• Posture
• Spontaneous movement
• Dysmorphism
• Alertness
Palpation:
Truncal tone:
• Pull to sit manuever
• Vertical suspension
• Ventral suspension
Tone of the upper limb
• Palpation of the muscle
• Passive movement of joints
• Scurf sign
• Arm recoil
• Palmar grasp
• Moro reflex
• Jerks of upper limbs
•
Tone of lower limb:
• Palpation
• Passive movement of joints
• Poplitial angle
• Heal to ear
• Placing reflex
• Stepping reflex
• Planter grasp
• Jerks of lower limbs
• Premitive reflexes
Relevant:
OFC
Face: Dysmorphism, Hepatosplenomegaly
33
Senosry system
34
35
Examination of Musculoskeletal System of Lower Limb
Inspection
• Position
• Color: Inspect for redness, bruising, or discoloration
• Muscle Bulk: Compare muscle mass between limbs
• Swelling: Look for any swelling or edema
• Deformity: Check for any visible deformities, such as bowing or angulation
• Symmetry: Ensure both limbs are symmetrical
• Skin Changes: Note any scars, lesions, or rashes
Palpation
• Temperature
• Tenderness
• Swelling
• Muscle Tone
• Joints: Palpate joints for swelling, heat, tenderness, and fluid
Range of Motion
o Hip Joint: Flexion, extension, abduction, adduction, internal and external rotation
o Knee Joint: Flexion and extension
o Ankle Joint: Dorsiflexion, plantarflexion, inversion, and eversion
o Toes: Flexion, extension, abduction, and adduction
Functional Tests
• Leg Length Measurement:
o Measure from anterior superior iliac spine (ASIS) to medial malleolus to check
for discrepancies
Neurological Examination
o Reflexes: Patellar (knee jerk), Achilles (ankle jerk)
o Sensation: Check dermatomes for sensory deficits
Relevant Examinations
• Head: OFC, Shape, Size, Fontanelles (in infants)
• Vitals
• Back and spine
• Hand: Pulses, Palmar Grasp (in infants)
• Foot: Edema, Plantar Grasp (in infants)
• Check for Signs of Shock
• Heart and Lung Auscultation
36
Examination of Skin with Rash
Inspection
• Color of the skin
• Type of Rash:
o Macular
o Papular
o Vesicular
o Pustular
o Bullous
o Petechial
o Purpuric
• Distribution:
o Localized or generalized
o Symmetrical or asymmetrical
o Sunexposed areas or flexural areas
• Configuration:
o Linear
o Annular
o Targetoid
o Serpiginous
o Reticular
• Associated Features:
o Scaling
o Crusting
o Lichenification
o Excoriation
o Ulceration
o Erythema
o Edema
Palpation
• Temperature
• Tenderness
• Texture:
o Smooth
o Rough
o Dry
o Moist
• Consistency:
o Soft
o Firm
o Indurated
37
• Mobility:
o Fixed or mobile
• Assess Blanching:
o Press rash to see if it blanches if bleeding no blanch, if vascular cause will blunch
• Check for Fluid:
o If vesicles or bullae are present
Relevant Examinations
• Head: Scalp, face, ears
• Eyes: Conjunctival injection, periorbital rash
• Oral Cavity: Mucous membrane lesions
• Hands: Palmar rash, nail changes
• Feet: Plantar rash, interdigital spaces
• Genitals: Rash in perineal or genital areas
• Lymph Nodes: Check for lymphadenopathy
• Heart and Lung Auscultation
• Abdomen: Liver and spleen enlargement
• Vitals: Temperature, pulse, respiratory rate, blood pressure
Examination of Eyes
Inspection
• General Appearance of Eyes
• Eyelids: Ptosis, retraction, swelling
• Conjunctiva and Sclera: Redness, pallor, jaundice
• Cornea: Clarity, size, shape
• Pupil: Size, shape, symmetry
• Iris: Color, abnormalities
• External Eye Movement: Strabismus, nystagmus
Palpation
• Temperature
• Tenderness
• Consistency
• Palpate Lacrimal Gland and Duct
Functional Tests
o Visual Acuity: Red ball
o Pupil Reflexes: Direct and consensual light reflex
o Accommodation Reflex: Observe pupil constriction and convergence
Ophthalmoscopy
38
o Inspect Optic Disc: Color, margins, cupdisc ratio
o Retina: Vessels, macula, fovea
o Look for abnormalities: Hemorrhages, exudates, papilledema
Relevant Examinations
• Features of TORCH
• Vitals
• Cranial Nerve Assessment (II, III, IV, VI)
• Reflexes (Moro, rooting, sucking in infants)
39
Newborn Ballard scoring
40
Differentiation of Syndromes by System
Nervous System Syndromes
Syndrome Key Differentiating Features
Neurofibromatosis Caféaulait spots, Lisch nodules, neurofibromas
Congenital Myotonic Dystrophy Muscle weakness, hypotonia, facial diplegia
Tuberous Sclerosis Hypomelanotic macules, facial angiofibromas, cortical tubers
Spinal Muscular Atrophy (SMA) Muscle weakness, respiratory distress, genetic testing
Friedreich Ataxia Ataxia, cardiomyopathy, scoliosis
Fragile X Syndrome Intellectual disability, large ears, elongated face
Hunter Syndrome Hepatosplenomegaly, joint stiffness, coarse facial features
Musculoskeletal System Syndromes
Syndrome Key Differentiating Features
Marfan Syndrome Tall stature, long limbs, aortic dilation
EhlersDanlos Syndrome Hyperelastic skin, joint hypermobility, easy bruising
Osteogenesis Imperfecta Frequent fractures, blue sclera, hearing loss
Achondroplasia Short stature, macrocephaly, midface hypoplasia
Craniosynostosis
Syndrome
Abnormal head shape, early suture closure, may involve Crouzon, Apert
syndromes
Jeune Syndrome Narrow chest, short ribs, polydactyly
Craniofacial System Syndromes
41
Syndrome Key Differentiating Features
Crouzon Syndrome Proptosis, beaked nose, midface hypoplasia
Apert Syndrome Syndactyly, midface hypoplasia, cleft palate
Carpenter Syndrome Craniosynostosis, polysyndactyly, congenital heart defects
Pierre Robin
Sequence
Micrognathia, glossoptosis, cleft palate
Treacher Collins
Syndrome
Mandibular hypoplasia, zygomatic bone hypoplasia, downward slanting
palpebral fissures
CHARGE Syndrome Coloboma, heart defects, choanal atresia, growth retardation, genital
abnormalities, ear abnormalities
Cardiovascular System Syndromes
Syndrome Key Differentiating Features
CHD (ASD, VSD, PDA) Heart murmurs, cyanosis, poor weight gain
Turner Syndrome Short stature, webbed neck, lymphedema of hands/feet, congenital
heart defects
Ellis van Creveld
Syndrome
Polydactyly, short limb dwarfism, congenital heart defects (ASD)
Endocrine System Syndromes
Syndrome Key Differentiating Features
42
Congenital Hypothyroidism Prolonged jaundice, large fontanelle, umbilical hernia
Hyperthyroidism Weight loss, tachycardia, goiter
Androgen Insensitivity Syndrome Female external genitalia, absent uterus, undescended testes
Hematopoietic System Syndromes
Syndrome Key Differentiating Features
Thalassemia Anemia, hepatosplenomegaly, chipmunk facies
Sickle Cell Anemia Painful crises, anemia, splenic sequestration
Fanconi Anemia Short stature, thumb abnormalities, bone marrow failure
Hereditary Spherocytosis Hemolytic anemia, jaundice, splenomegaly
Von Willebrand Disease Prolonged bleeding, easy bruising, mucocutaneous bleeding
Metabolic System Syndromes
Syndrome Key Differentiating Features
Cystic Fibrosis Recurrent respiratory infections, pancreatic insufficiency, meconium
ileus
Phenylketonuria Intellectual disability, eczema, musty body odor
Galactosemia Jaundice, hepatomegaly, failure to thrive
Lysosomal Storage
Disease
Organomegaly, bone pain, neurological symptoms
α1Antitrypsin Deficiency Liver disease, emphysema
43
Wilson Disease KayserFleischer rings, liver disease, neurological symptoms
Hemochromatosis Liver cirrhosis, diabetes, bronze skin pigmentation
Glycogen Storage Disease Hypoglycemia, hepatomegaly, muscle cramps
Gastrointestinal and Hepatic System Syndromes
Syndrome Key Differentiating Features
Familial Polyposis Coli Multiple colorectal polyps, increased risk of colorectal cancer
Gilbert Syndrome Mild jaundice, elevated bilirubin levels, often asymptomatic
Urinary System Syndromes
Syndrome Key Differentiating Features
Polycystic Kidney Disease Enlarged kidneys with multiple cysts, hypertension, renal failure
Alport Syndrome Hematuria, hearing loss, ocular abnormalities
Ocular System Syndromes
Syndrome Key Differentiating Features
Congenital Cataract Lens opacity, poor vision, nystagmus
44
Glaucoma Enlarged eye, corneal clouding, tearing
Albinism Hypopigmentation of skin/hair, vision problems, photophobia
Retinoblastoma Leukocoria, strabismus, eye pain
Lowe Syndrome Congenital cataracts, glaucoma, renal tubular dysfunction
Ocular Albinism Reduced pigmentation in iris/retina, nystagmus, reduced visual acuity

clinical examination of newborn check list- all systems at glance

  • 1.
    Clinical examination ofnewborn Check list V.1.0 Dr. Ahmad Habibur Rahim Special thanks to- Dr. Faria yasmin
  • 2.
    1 Contents General examination .......................................................................................................................2 Clinical Examination of Face.......................................................................................................... 4 Anthropometry Examination Sequence .......................................................................................... 5 Clinical Examination of Vitals........................................................................................................ 6 IDM baby........................................................................................................................................ 7 Examination of Disorders of Sex Development (DSD).................................................................. 7 Examination of Jaundice................................................................................................................. 8 Clinical Examination of TORCH Infections................................................................................... 9 Examination of a Syndromic Baby................................................................................................11 Abdomen And relevants:............................................................................................................... 14 Examination of Umbilicus............................................................................................................ 15 Omphalocele ................................................................................................................................. 16 Examination of Gastroschisis ....................................................................................................... 17 Clinical Examination of Hernia/Hydrocele .................................................................................. 18 Examination of Hydronephrosis ................................................................................................... 19 Chest and relevant......................................................................................................................... 20 Adequacy of Mechanical Ventilator.............................................................................................. 21 CPAP Adequacy............................................................................................................................ 23 Examination of Back and relevant................................................................................................ 25 Examination of head and relevant (Birth Injury).......................................................................... 26 Examination of Cystic Hygroma .................................................................................................. 28 Neural Tube Defect and Hydrocephalus....................................................................................... 28 Primitive reflexes.......................................................................................................................... 29 Examination of Cranial Nerves of Newborn ................................................................................ 30 Motor examination of Lower limb................................................................................................ 31 Tone assesment and relevant......................................................................................................... 32 Senosry system.............................................................................................................................. 33 Examination of Musculoskeletal System of Lower Limb ............................................................ 35 Examination of Skin with Rash .................................................................................................... 36 Examination of Eyes..................................................................................................................... 37 Newborn Ballard scoring .............................................................................................................. 39
  • 3.
    2 ....................................................................................................................................................... 39 Differentiation ofSyndromes by System...................................................................................... 40 General examination Salam, Intro, permission Mention wash hands> hexisol rub Hexisol rub of instruments Check all support ABCDE • Expose properly • Overall look • Posture, color, movement,activity • visible congenital anomaly. Birth injury • Term, Preterm, LBW, LGA • Sign of respiratory distress • Count Respiratory rate (ask watch) 15 sec • Heart rate (locate apex beat) 10 sec • Heart sound in all 4 areas • Breath sound in all 6 areas • Bowel sound 10 sec Head • OFC • Anterior and posterior fontanells • Caput/hematoma Fore head: Jaundice (Daylight) Eyes: eyelid, conjuctive, cataract, pupil, hemorrhage, epicanthic fold (Torch) Nose: Nasal flaring, atresia (Torch) Oral cavity: cleft lip, palate, toungue tie, cyanosis, micrognathia, oral thrush, frothing (Torch) Ear: deformity, pre auricular tag, Hairy Ear, recoiling (without torch)
  • 4.
    3 • Rooting reflex •Sucking reflex (ask to wash hand) Neck • sternocleido mastoid tumor, thyroglossal cyst, clavicle • Clavicle fracture, short neck, web neck, torticolis, • Birth trauma Chest: • CRT for 5 seconds • Jaundice • Breast Bud Upper limb: • Any defromity, fracture, syndactyle, Erbs palsy, Klumkes Palsy • Radial pulses, brachial, brachio radial, brachio femoral • Hands, digits, palmar grasp, palmar crease, anemia, jaundice, cyanosis Abdomen: • Umbilicus, Jaundice, • Abdominal distension, visible peristalsis, visible mass, gastroschisis, Omphalocele Inguinal region: Genitalia, descended testis, penis, vulva, clitoris Hip: Ortolani, Barlow, anal patency • Thigh, jaundice • Leg: jaundice, poplitial pulse • Feet: finger, plater grasp, crease, Back and spine • Anal patency, • Moro reflex • Cover the baby again • Ask for Weight, Length, NIBP, CBG and plot it into chart • And New ballard scoring • Give thanks and salam Relevant: If Jaundice: • Liver and spleen,
  • 5.
    4 • Tone andJerks Clinical Examination of Face Inspection • Symmetry • Facial Expression • Visible Deformities • Skin (rashes, lesions, scars) Head • OFC • Anterior and posterior fontanells • Caput/hematoma Fore head: Jaundice (Daylight) Eyes: eyelid, conjuctive, cataract, pupil, hemorrhage, epicanthic fold (Torch) Nose: Nasal flaring, atresia (Torch) Oral cavity: cleft lip, palate, toungue tie, cyanosis, micrognathia, oral thrush, frothing (Torch) Ear: deformity, pre auricular tag, Hairy Ear, recoiling (without torch) • Rooting reflex • Sucking reflex (ask to wash hand) • Features of facial nerve, trigeminal nerve, occular nerve palsy Palpation • Temperature • Tenderness • Muscle Tone • Masses or Swellings • Parotid Gland Enlargement • Lymph Nodes (submandibular, preauricular, postauricular) Relevant Examinations • Head: OFC, Shape, Size, Fontanelles • Cyanosis • Temperature
  • 6.
    5 • Oral Cavity:Mucous Membranes, Tongue • Capillary Refill Time (CRT) • Vitals • Hand: Pulses • Abdomen: Liver and Spleen • Foot: Edema • Measure BP • Check for Shock and Heart Failure • Features of sepsis • Neurological Examination: Cranial Nerve Function (especially CN V, VII) • Eyes: Pupil Size, Reaction to Light, Conjunctiva • Ears: Hearing Test, Discharge • Nose: Nasal Patency, Discharge • Mouth: Teeth, Gums, Tongue, Palate Anthropometry Examination Sequence Inspection • Salam, Introduction, Permission • Mention Washing Hands > Hexisol Rub • Hexisol Rub of Instruments • Check All Support ABCDE Measurements • Weight • Length • Head Circumference Relevant Examinations • Head: Shape, Size, Fontanelles • Cyanosis • Temperature • Oral Cavity: Mucous Membranes, tongue position • Capillary Refill Time (CRT) • Vitals • Hand: Pulses, Palmar Grasp • Foot: Edema, Plantar Grasp • Measure BP • Check for Signs of Shock • Heart and Lung Auscultation • Neurological Examination o Reflexes (Moro, rooting, sucking in infants)
  • 7.
    6 • Abdominal Examination oPalpate for organomegaly Clinical Examination of Vitals Inspection • Salam, Introduction, Permission • Mention Washing Hands > Hexisol Rub • Hexisol Rub of Instruments • Check All Support ABCDE Measuring Vitals • Temperature o Measure using a digital or mercury thermometer. 3 min • Pulse o Palpate radial or brachial artery. o Count for 30 seconds. o Assess rate, rhythm, and volume. • Respiratory Rate o Observe chest or abdomen movements. o Count breaths for 30 seconds. o Assess for regularity, depth, and effort. • Blood Pressure o Use a sphygmomanometer NIBP o Ensure proper cuff size and position. o Measure systolic and diastolic pressure. • Oxygen Saturation (SpO2) o Use a pulse oximeter. o Place on finger, toe, or earlobe. o Read the percentage of oxygen saturation. • Capillary Refill Time (CRT) o Press on the nail bed until it turns white. o Release and count the seconds until color returns. o Normal CRT is less than 2 seconds. Relevant Examinations • Head: Shape, Size, Fontanelles • Cyanosis: Lips, Nail Beds, Extremities • Temperature: Check for any abnormal body temperature • Oral Cavity: Inspect mucous membranes for hydration status • CRT: Check on extremities to assess perfusion • Hand: Pulses, palmar grasp (in infants)
  • 8.
    7 • Abdomen: Liverand spleen size (organomegaly) • Foot: Edema, plantar grasp (in infants) • Measure BP: Regular intervals • Check for Signs of Shock: Tachycardia, hypotension, cold extremities • Heart and Lung Auscultation: Murmurs, breath sounds IDM baby • General examination • Chest hairy pina • Plumpy appearance • Macrosomia • Check for congenital anomalies Examination of Disorders of Sex Development (DSD) Inspection • External Genitalia: o Ambiguous genitalia o Clitoral enlargement or micropenis o Labial fusion or bifid scrotum o Urogenital sinus or hypospadias • Skin: o Hyperpigmentation o Rashes • Secondary Sexual Characteristics (Not in neonates) Palpation • Temperature • Tenderness • Gonadal Palpation: o Presence or absence of testes in scrotum or inguinal canal o Ovaries, if palpable • Consistency and Size of Gonads • Inguinal Region: o Hernias or masses • Abdomen: (orgaomegaly in IEM) o Organomegaly (liver, spleen) o Masses Relevant Examinations
  • 9.
    8 • Head: OFC,Shape, Size, Fontanelles (in infants) • Cyanosis • Temperature • Oral Cavity: Mucous Membranes • Capillary Refill Time (CRT) • Vitals (History vomiting, dehydration) • Hand: Pulses, Palmar Grasp (in infants) • Foot: Edema, Plantar Grasp (in infants) • Measure BP • Check for Signs of Shock • Heart and Lung Auscultation Examination of Jaundice Inspection • Posture • Color o Yellowing of the skin o Yellowing of the sclera (icterus) • Extent of Jaundice o Face, trunk, limbs • Skin Rash or Lesions • Hydration Status o Dry mucous membranes o Sunken eyes • Visible Signs of Liver Disease • Hydrops fetalis Palpation • Temperature • Tenderness o Abdominal tenderness o Right upper quadrant tenderness • Liver Size o Hepatomegaly (enlarged liver) o Consistency of liver • Spleen Size o Splenomegaly (enlarged spleen) • Ascites o Presence of abdominal fluid Relevant Examinations
  • 10.
    9 • Head: OFC,Shape, Size, Fontanelles (in infants) • Anemia • Temperature • Oral Cavity: Mucous Membranes • Capillary Refill Time (CRT) • Vitals • Hand: Pulses, Palmar Grasp (in infants) • Foot: Edema, Plantar Grasp (in infants) • Measure BP • Check for Signs of Shock • Heart and Lung Auscultation • Neurological Examination o Tone, Jerks, Lethargy, Irritability o Highpitched cry Clinical Examination of TORCH Infections General Inspection • Posture • Color: Observe for pallor, cyanosis, jaundice • General Appearance: Note any dysmorphic features or growth retardation Systemic Examination 1. Toxoplasmosis • Head: Check for hydrocephalus, microcephaly, or macrocephaly • Eyes: Look for chorioretinitis, cataracts • Neurological: Assess for seizures, hypotonia, or spasticity • Skin: Observe for petechiae, purpura Other (Syphilis, Varicella, Parvovirus B19) Syphilis: • Skin: Look for maculopapular rash, particularly on palms and soles • Mouth: Check for mucous patches • Bone: Palpate for bony tenderness (periostitis) • Neurological: Assess for signs of neurosyphilis (e.g., irritability, seizures) Varicella (Chickenpox): • Skin: Check for vesicular rash • Respiratory: Assess for signs of pneumonia
  • 11.
    10 Parvovirus B19: • Skin: oLook for slapped cheek appearance, erythema infectiosum • Hematological: o Check for anemia Rubella • Head: Check for microcephaly • Eyes: Look for cataracts, retinopathy • Cardiac: Auscultate for murmurs indicating congenital heart disease (e.g., PDA, pulmonary artery stenosis) • Skin: Observe for blueberry muffin rash Cytomegalovirus (CMV) • Head: Check for microcephaly, intracranial calcifications • Eyes: Look for chorioretinitis • Hepatosplenomegaly: Palpate for enlarged liver and spleen • Skin: Observe for petechiae, purpura Herpes Simplex Virus (HSV) • Skin: Look for vesicular lesions, especially around the mouth and eyes • Mouth: Check for oral lesions • Neurological: Assess for signs of encephalitis (e.g., lethargy, seizures) • Eyes: Look for keratoconjunctivitis Neurological Examination • Muscle Tone: Assess for hypotonia or hypertonia • Reflexes: Check primitive reflexes (Moro, rooting, sucking) • Developmental Milestones: Assess for delays in motor, social, and cognitive development • Cranial Nerves: Evaluate function, especially vision (optic nerve) and hearing (auditory nerve) Cardiac Examination • Heart Sounds: Auscultate for murmurs indicating congenital heart disease • Pulse: Check peripheral pulses for symmetry and strength
  • 12.
    11 Respiratory Examination • BreathingPattern: Observe for respiratory distress • Lung Sounds: Auscultate for crackles or wheezes • Gastrointestinal Examination • Abdominal Examination: Check for hepatosplenomegaly, abdominal distention Relevant Examinations • Head: OFC, Shape, Size, Fontanelles • Eyes: Inspect for signs of chorioretinitis, cataracts • Ears: Hearing assessment • Skin: Look for rashes, petechiae, vesicles • Mouth: Check for oral lesions • Capillary Refill Time (CRT) • Vitals: Temperature, pulse, respiratory rate, blood pressure • Hand: Pulses, Palmar Grasp • Foot: Edema, Plantar Grasp • Measure BP • Check for Signs of Shock • Heart and Lung Auscultation Examination of a Syndromic Baby Inspection • Posture • Color • Facial Dysmorphism: o Flattened nasal bridge o Upward slanting palpebral fissures o Epicanthal folds o Lowset ears o Micrognathia o Widespaced eyes (hypertelorism) • Skin: o Birthmarks, rashes, pigmentation o Cafeaulait spots
  • 13.
    12 • Hands andFeet: o Single transverse palmar crease o Polydactyly, syndactyly o Clinodactyly • General Appearance: o Small stature o Abnormal body proportions Head Examination • Size and Shape: Macrocephaly, microcephaly • Fontanelles: Large or small fontanelles • Sutures: Wide or prematurely fused sutures • Eyes: Cataracts, Brushfield spots • Ears: Shape, size, position Chest Examination • Shape: Barrelshaped chest, pectus excavatum or carinatum • Respiratory Effort: Signs of distress • Auscultation: Heart murmurs • Breath sounds Abdominal Examination • Size: Distended abdomen • Palpation: Organomegaly (liver, spleen) • Umbilical Region: Hernia, abnormal positioning Genital Examination • Ambiguous genitalia • Hypospadias, cryptorchidism • Labial fusion, clitoromegaly Extremities Examination • Posture: Contractures, deformities • Reflexes: Presence and strength • Palmar and Plantar Grasp Neurological Examination • Muscle Tone: Hypotonia, hypertonia • Reflexes: Moro, rooting, sucking
  • 14.
    13 • Developmental Milestones:Assess for delays • Cranial Nerves: Function assessment
  • 15.
    14 Abdomen And relevants: •Salam, Intro, permission • Mention wash hands> hexisol rub • Hexisol rub of instruments • Check all support ABCDE • Expose the baby properly Inspection • Whole abdomen • Umbilicus • Smell the umbilicus Palpation • Superficial palpation: look at the face during palpation • Deep palpation: left kidney, spleen, liver, right kidney • If organomegaly measure, feel margin, consitancy, left lobe, Upper border of liver dullness • Bladder • Genitalia • Anus Auscultate: Bowel sound for 15 sec Relevant: • OFC • Anterior fontanells • Dysmorphism • Skin survey • Eyes: cataract, choreoretinitis • Rooting, sucking • Heart (heart reate, Murmur) • Lung (respiratory rate) • Jaundice • Pulses • Hand: pallor, Jaundice, palmar grasp • Leg: jaundcie, Plater grasp • Oedema • Moro reflex • Ask for Weight, Length, BP, CBG and plot it into chart
  • 16.
    15 DD: • Sepsis • TORCH •IEM • Hemolytic disease of newborn Examination of Umbilicus Inspection • Condition of Umbilical Stump: Dry, moist, or discharge • Presence of granuloma, polyp, or hernia • Surrounding Skin: Redness, swelling, signs of infection • Abnormalities: Umbilical hernia, omphalitis, bleeding • Shape and Size: Inverted, protruding, normal • Odor: Any foul smell indicating infection Palpation • Temperature • Tenderness • Consistency of Umbilical Stump: Soft, firm • Surrounding Area: Assess for warmth, swelling • Presence of Masses: Check for umbilical hernia Functional Tests • Assess Reducibility: If an umbilical hernia is present, check if it can be reduced • Check for Discharge: Color, amount, consistency Relevant Examinations • Features of sepsis • Bleeding disorder • vitals • Organomegaly • Heart and Lung Auscultation
  • 17.
    16 Omphalocele Inspection: • Smell ofthe umbilicus • Bandage (ask to remove) • Flanks • Sorrounding skin Palpation: • Local examination Temperature • Skin • Color • Content • Organ palpation • Genitalia • Anus • Bowel sound Relevant: • Head to toe: dysmophism • Oral cavity: Cyanosis, Tongue • Chest: Murmur • Lungs: Auscultate • Hand • Back and spine for anomaly • Features of DOWN syndrome
  • 18.
    17 Examination of Gastroschisis Inspection •Protruding Intestines o Location of defect (usually to the right of the umbilicus) o Absence of covering membrane • Appearance of Exposed Bowel o Color, edema, injury • Signs of Inflammation or Infection o Redness, swelling • Hydration Status o Dry mucous membranes, sunken eyes Palpation • Temperature • Tenderness o Consistency of Protruding Bowel: Assess for firmness or softness o Abdominal Examination: Palpate the surrounding abdominal wall for defects o Presence of Other Anomalies: Check for any associated anomalies in other systems Relevant Examinations • Head: OFC, Shape, Size, Fontanelles (in infants) • Cyanosis • Temperature • Oral Cavity: Mucous Membranes • Capillary Refill Time (CRT) • Vitals • Measure BP • Check for Signs of Shock • Heart and Lung Auscultation • Hydration Status • Skin turgor, urine output
  • 19.
    18 Clinical Examination ofHernia/Hydrocele • Salam, Introduction, Permission • Mention Washing Hands > Hexisol Rub • Hexisol Rub of Instruments • Check All Support ABCDE Inspection • Swelling in Inguinal or Scrotal Area • Size and Shape of Swelling • Symmetry (Unilateral or Bilateral) • Visible Pulsation • Reducibility of Swelling Palpation • Temperature • Tenderness • Consistency (Soft, Firm, Fluctuant) • Fluctuation Test • Transillumination Test • Inguinal Canal: Palpate for Hernial Sac • Impulse on Coughing (Cough Impulse) • Reducibility of Hernia • Position of Testes Relevant Examinations • Vitals • Examine Opposite Side for Comparison • Associated congenital anomalies
  • 20.
    19 Examination of Hydronephrosis Inspection •Abdominal Distention • Visible Masses or Swelling • Flank Pain or Tenderness • Signs of Urinary Retention • Hydration Status • Dry mucous membranes, sunken eyes • Obseve Urinary flow • Abdominal distension • Features of urinary ascites Palpation • Temperature • Tenderness • Abdominal Examination o Palpate for masses or enlarged kidneys o Assess for firmness or softness of any masses o Right and left flank areas • Bladder Palpation o Assess for bladder distention • Presence of Other Anomalies o Check for any associated anomalies in other systems Relevant Examinations • Head: OFC, Shape, Size, Fontanelles (in infants) • Vitals • Edema • Measure BP • Check for Signs of Shock • Heart and Lung Auscultation • Hydration Status: Skin turgor, urine output • Genital Examination • Look for any associated abnormalities • Test for posterior urethral vulve
  • 21.
    20 Chest and relevant: DD •Pneumonia • Sepsis • CHD • Heart failure Inspection • Salam, Intro, permission • Mention wash hands> hexisol rub • Hexisol rub of instruments • Check all support ABCDE • Posture, color • Sign of respiratory distress • Shape of the chest • Visible apex beat • Pulsation • Hear for grunting • Count respiratory rate • Locate apex beat • And count heart rate • Auscultate heart lung • Auscultate the back? Relevant: • Cyanosis • Temperature • Oral cavity • Rooting • Sucking • CRT • Vitals • Hand: Pulses, palmar grasp • Abdomen: Liver and spleen • Foot: edema, planter graps • Measure BP • Check for shock and heart failure
  • 22.
    21 Adequacy of MechanicalVentilator • Salam, Introduction, Permission • Mention Washing Hands > Hexisol Rub • Hexisol Rub of Instruments • Check All Support ABCDE Inspection: (baby, support, MV, chest) • Baby: (from 2 sides) • Color (pallor, cyanosis) • Activity • Respiratory distress (nasal flaring, grunting) • Chest movement • Support: ▪ IVF, inotropes, blood transfusion ▪ Thermal support ▪ Pulse oximeter (HR, saturation) ▪ OG tube ▪ Umbilical stamp ET tube: • Size • Position Mechanical Ventilator setup: • Mode, PIP, PEEP, rate, FiO2, Ti, I:E ratio • Volume targeted, pressure support • Selfrespiration Mechanical Ventilator machine examination • Ventilator Settings Check • Oxygen Source • Tubing Connections • Humidifier • Alarm Settings • Tidal volume (ask for weight; weight is shown in some MV) • Selfbreath • Graph (with permission if only observation) ▪ Loop: flow, pressure, volume
  • 23.
    22 ▪ Curve: pressurevolume,flowvolume. Permission: I want to see the MV graphics for assessing machine/ patient condition I want to count respiratory rate & examine chest for assessing respiratory condition Examination with relevant: (respiratory, hemodynamic stability) Chest: A. Count respiratory rate, Apex beat locate & heart rate B. Auscultate chest for air entry C. CRT D. Breast bud for maturity E. Auscultate back Hand: pulse volume for shock. Want to see Chest X ray, Echocardiography
  • 24.
    23 CPAPAdequacy Inspection: • Support • SPO2:if SPO2 >95% then say, want to decrease setup/ FiO2. • CPAP setup • Inspect the baby from both sides to see the chest movement • Activity of the baby Hear: grunting Face: ▪ Color ▪ Cyanosis (by TORCH) ▪ To see nasal flaring, I want to remove the nasal interface ▪ See any nasal injury ▪ OG tube: check if open/not. Chest: • Inspection: upper & lower chest indrawing • Should do: Silverman or Downe’s score • RR counting • HR counting • Apex beat • Auscultate chest, air entry, both front & back. • Murmur • CRT • Breast bud to see the diagnosis (help for diagnosis) Hand: pulse volume, palmer grasp Abdomen: • Distended or not (exclude CPAP belly) • May ask for baseline Abdominal girth CPAP: • Nasal interface (appropriate size, attachment, take permission to see injury) • Head cap • Circuit (intact, inspiratory & expiratory limb) • Bubbling • Waterlevel • Water in circuit
  • 25.
    24 • Humidifier • Humidifiertemperature • Flow meter • Blender • Oxygen connection • Set up Ask for BP, Urine output, ABG, Chest X ray
  • 26.
    25 Examination of Backand relevant Look for bandage (ask to remove for proper examination) Inspection: Head Eyes Gross congenital anomaly Lower limb: Posture, paucity of movement, clubfoot Palpation: • Whole spine • Then watch the swelling • Size • Site • Leaking • Denuded skin • Fecal incontinence • Dribbling of urine • Identifylocation and illiac crest • Measure swelling • Temperature • Fluctuation • Consistency • Tenderness • Transillumination Relevant: • Anal wink • Lower limb tone • Jerk • Reflexes • Clonus • Abdomen: kidney for hydronephrosis • Urinary baldder: for retention • OFC
  • 27.
    26 • Anterior fontanells •Upper limb • Tone • Reflexes • Jerk • Heart: auscultation Examination of head and relevant (Birth Injury) Inspection • Posture • Alertness • Active movement/ reduced movement in any limb • Color o Skin: Bruising, petechiae, lacerations o Subcutaneous fat necrosis • Head: o Caput succedaneum o Cephalohematoma o Skull fractures • Face: o Facial asymmetry (nerve injury) o Eye: subconjunctival hemorrhage • Neck: o Swelling (sternocleidomastoid hematoma) • Limbs: o Brachial plexus injury signs (Erb’s palsy, Klumpke’s palsy) o Fractures (clavicle, humerus, femur) • Abdomen: o Distention o Bruising Palpation • Temperature • Tenderness • Consistency of Swellings • Head: o Fontanelles (bulging, sunken) o Sutures (wide, overlapping)
  • 28.
    27 • Neck: o Palpatefor masses or hematomas • Limbs: o Check for crepitus or abnormal movement (fractures) o Erbs palsy: Klumkes paralysis o Muscle tone and reflexes • Abdomen: o Organomegaly (liver, spleen) o Abdominal wall integrity o Abdomen: Umbilical bleeding Neurological Examination • Cranial Nerves: o Facial nerve function o Sucking and rooting reflexes • Muscle Tone: o Hypotonia, hypertonia • Reflexes: o Moro, grasp, stepping reflexes Local injury examination: • Size of the Swelling • Shape • Site • Temperature • Tenderness • Consistancy • Extension • Fluctuation • Transillumination Relevant Examinations • Head: OFC, Shape, Size, Fontanelles • Vitals • features of shock • Other birth injury • Shock • Anemia • Jaundice • Heart and Lung Auscultation • Respiratory Assessment • Reflexes
  • 29.
    28 • Petechial rashover face Examination of Cystic Hygroma Inspection • Location of Mass • Size and Shape of Mass • Surface Characteristics: Smooth, irregular • Skin Changes • Overlying skin discoloration, ulceration • Visible Pulsations Palpation • Temperature • Tenderness • Consistency: Soft, cystic, or fluctuant • Mobility: Freely mobile or fixed • Transillumination Test: • Assess for Fluctuation • Check for Associated Lymphadenopathy Relevant Examinations • Vitals • Assess for any signs of airway obstruction or respiratory distress • Features of Turner syndrome, Down syndrome, Noonan syndrome Neural Tube Defect and Hydrocephalus Inspection • General looking • Head size, eyes, dysmorphisom, gross congenital anomaly • VP Shunt, Scalp vein • Temperature in fore head • Suture • Fontanel anterior and posterior fontanels • Occiput: Flat/ Prominent • OFC • Transillumination
  • 30.
    29 • Auscultation overAnterior fontanelles Relevant: • Eyes • Face Downes • Back • Anus • Tone: Upper and Lower limb • Heart – murmur • Hepatosplenomegaly • Sign of peritonitis • BP • Reflexes Primitive reflexes • Gabellar tap • Rooting • Sucking • Neck: ATNR, NRR • Palmar Grasp • Babkins sign • Planter grasp • Cross extension adduction • Placing. Stepping • Galant • Moro reflex
  • 31.
    30 Examination of CranialNerves of Newborn Inspection: • Facial asymmetry • Angle of mouth deviation • Nasolabial fold • Wrinkling over forehead • Listen for stridor, hoarseness or aphony during crying • Eyes: • ▪ Squint, Nystagmus, ptosis • ▪ Spontaneous eye blinking • ▪ Persistent eye opening/ incomplete closure Examination: • Light reflex to evaluate II & III • Eye Movement to evaluate Ⅲ, Ⅳ& Ⅵ • Rooting to evaluate Ⅴ & Ⅶ • Sucking & swallowing to evaluate Ⅴ, Ⅶ, Ⅸ, Ⅹ & Ⅻ • Ring bell or clap hand from 1 foot from head to evaluate cochlear part of Ⅷ • Moro reflex & Doll's eye maneuver (Oculo-cephalic reflex) to evaluate vestibular part- Ⅷ • Head flexion & Lateral rotation to evaluate Ⅺ Want to do following: ✓ Offer Mother's milk to see Olfactory nerve (I) ✓ Corneal reflex to evaluate Ⅴ & Ⅶ ✓ NG tube administration to produce gag reflex and also to see Ⅴ, Ⅶ, Ⅸ, Ⅹ & Ⅻ.
  • 32.
    31 Motor examination ofLower limb DD: • Spina Bifida • TORCH infection • Salam, Introduction, Permission • Mention Washing Hands > Hexisol Rub • Hexisol Rub of Instruments • Check All Support ABCDE Inspection • Position • Movement • Symmetry • Limb length discripency • Deformity • Congenital anomaly: sydactyle, clubfoot, VACTERL • Exessive skin fold: DDH Palpation • Temperature • Tenderness • Muscle Bulk • Tone (palpating the muscles, Passive movement, Popliteal angle, Heel to ear maneuver, Placing, Stepping) • Strength • Jerks (Knee, ankle joint) • Clonus • Ortolani and Barlow if musculo skeletal? Relevant: • Tone and Jerk of upper limb • Truncal tone • Head examination (Fontanells, OFC) • Hepato splenomegaly • Kidney • Urinary Bladder • Reflexes, Vitals
  • 33.
    32 Tone assesment andrelevant Inspection: • Posture • Spontaneous movement • Dysmorphism • Alertness Palpation: Truncal tone: • Pull to sit manuever • Vertical suspension • Ventral suspension Tone of the upper limb • Palpation of the muscle • Passive movement of joints • Scurf sign • Arm recoil • Palmar grasp • Moro reflex • Jerks of upper limbs • Tone of lower limb: • Palpation • Passive movement of joints • Poplitial angle • Heal to ear • Placing reflex • Stepping reflex • Planter grasp • Jerks of lower limbs • Premitive reflexes Relevant: OFC Face: Dysmorphism, Hepatosplenomegaly
  • 34.
  • 35.
  • 36.
    35 Examination of MusculoskeletalSystem of Lower Limb Inspection • Position • Color: Inspect for redness, bruising, or discoloration • Muscle Bulk: Compare muscle mass between limbs • Swelling: Look for any swelling or edema • Deformity: Check for any visible deformities, such as bowing or angulation • Symmetry: Ensure both limbs are symmetrical • Skin Changes: Note any scars, lesions, or rashes Palpation • Temperature • Tenderness • Swelling • Muscle Tone • Joints: Palpate joints for swelling, heat, tenderness, and fluid Range of Motion o Hip Joint: Flexion, extension, abduction, adduction, internal and external rotation o Knee Joint: Flexion and extension o Ankle Joint: Dorsiflexion, plantarflexion, inversion, and eversion o Toes: Flexion, extension, abduction, and adduction Functional Tests • Leg Length Measurement: o Measure from anterior superior iliac spine (ASIS) to medial malleolus to check for discrepancies Neurological Examination o Reflexes: Patellar (knee jerk), Achilles (ankle jerk) o Sensation: Check dermatomes for sensory deficits Relevant Examinations • Head: OFC, Shape, Size, Fontanelles (in infants) • Vitals • Back and spine • Hand: Pulses, Palmar Grasp (in infants) • Foot: Edema, Plantar Grasp (in infants) • Check for Signs of Shock • Heart and Lung Auscultation
  • 37.
    36 Examination of Skinwith Rash Inspection • Color of the skin • Type of Rash: o Macular o Papular o Vesicular o Pustular o Bullous o Petechial o Purpuric • Distribution: o Localized or generalized o Symmetrical or asymmetrical o Sunexposed areas or flexural areas • Configuration: o Linear o Annular o Targetoid o Serpiginous o Reticular • Associated Features: o Scaling o Crusting o Lichenification o Excoriation o Ulceration o Erythema o Edema Palpation • Temperature • Tenderness • Texture: o Smooth o Rough o Dry o Moist • Consistency: o Soft o Firm o Indurated
  • 38.
    37 • Mobility: o Fixedor mobile • Assess Blanching: o Press rash to see if it blanches if bleeding no blanch, if vascular cause will blunch • Check for Fluid: o If vesicles or bullae are present Relevant Examinations • Head: Scalp, face, ears • Eyes: Conjunctival injection, periorbital rash • Oral Cavity: Mucous membrane lesions • Hands: Palmar rash, nail changes • Feet: Plantar rash, interdigital spaces • Genitals: Rash in perineal or genital areas • Lymph Nodes: Check for lymphadenopathy • Heart and Lung Auscultation • Abdomen: Liver and spleen enlargement • Vitals: Temperature, pulse, respiratory rate, blood pressure Examination of Eyes Inspection • General Appearance of Eyes • Eyelids: Ptosis, retraction, swelling • Conjunctiva and Sclera: Redness, pallor, jaundice • Cornea: Clarity, size, shape • Pupil: Size, shape, symmetry • Iris: Color, abnormalities • External Eye Movement: Strabismus, nystagmus Palpation • Temperature • Tenderness • Consistency • Palpate Lacrimal Gland and Duct Functional Tests o Visual Acuity: Red ball o Pupil Reflexes: Direct and consensual light reflex o Accommodation Reflex: Observe pupil constriction and convergence Ophthalmoscopy
  • 39.
    38 o Inspect OpticDisc: Color, margins, cupdisc ratio o Retina: Vessels, macula, fovea o Look for abnormalities: Hemorrhages, exudates, papilledema Relevant Examinations • Features of TORCH • Vitals • Cranial Nerve Assessment (II, III, IV, VI) • Reflexes (Moro, rooting, sucking in infants)
  • 40.
  • 41.
    40 Differentiation of Syndromesby System Nervous System Syndromes Syndrome Key Differentiating Features Neurofibromatosis Caféaulait spots, Lisch nodules, neurofibromas Congenital Myotonic Dystrophy Muscle weakness, hypotonia, facial diplegia Tuberous Sclerosis Hypomelanotic macules, facial angiofibromas, cortical tubers Spinal Muscular Atrophy (SMA) Muscle weakness, respiratory distress, genetic testing Friedreich Ataxia Ataxia, cardiomyopathy, scoliosis Fragile X Syndrome Intellectual disability, large ears, elongated face Hunter Syndrome Hepatosplenomegaly, joint stiffness, coarse facial features Musculoskeletal System Syndromes Syndrome Key Differentiating Features Marfan Syndrome Tall stature, long limbs, aortic dilation EhlersDanlos Syndrome Hyperelastic skin, joint hypermobility, easy bruising Osteogenesis Imperfecta Frequent fractures, blue sclera, hearing loss Achondroplasia Short stature, macrocephaly, midface hypoplasia Craniosynostosis Syndrome Abnormal head shape, early suture closure, may involve Crouzon, Apert syndromes Jeune Syndrome Narrow chest, short ribs, polydactyly Craniofacial System Syndromes
  • 42.
    41 Syndrome Key DifferentiatingFeatures Crouzon Syndrome Proptosis, beaked nose, midface hypoplasia Apert Syndrome Syndactyly, midface hypoplasia, cleft palate Carpenter Syndrome Craniosynostosis, polysyndactyly, congenital heart defects Pierre Robin Sequence Micrognathia, glossoptosis, cleft palate Treacher Collins Syndrome Mandibular hypoplasia, zygomatic bone hypoplasia, downward slanting palpebral fissures CHARGE Syndrome Coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, ear abnormalities Cardiovascular System Syndromes Syndrome Key Differentiating Features CHD (ASD, VSD, PDA) Heart murmurs, cyanosis, poor weight gain Turner Syndrome Short stature, webbed neck, lymphedema of hands/feet, congenital heart defects Ellis van Creveld Syndrome Polydactyly, short limb dwarfism, congenital heart defects (ASD) Endocrine System Syndromes Syndrome Key Differentiating Features
  • 43.
    42 Congenital Hypothyroidism Prolongedjaundice, large fontanelle, umbilical hernia Hyperthyroidism Weight loss, tachycardia, goiter Androgen Insensitivity Syndrome Female external genitalia, absent uterus, undescended testes Hematopoietic System Syndromes Syndrome Key Differentiating Features Thalassemia Anemia, hepatosplenomegaly, chipmunk facies Sickle Cell Anemia Painful crises, anemia, splenic sequestration Fanconi Anemia Short stature, thumb abnormalities, bone marrow failure Hereditary Spherocytosis Hemolytic anemia, jaundice, splenomegaly Von Willebrand Disease Prolonged bleeding, easy bruising, mucocutaneous bleeding Metabolic System Syndromes Syndrome Key Differentiating Features Cystic Fibrosis Recurrent respiratory infections, pancreatic insufficiency, meconium ileus Phenylketonuria Intellectual disability, eczema, musty body odor Galactosemia Jaundice, hepatomegaly, failure to thrive Lysosomal Storage Disease Organomegaly, bone pain, neurological symptoms α1Antitrypsin Deficiency Liver disease, emphysema
  • 44.
    43 Wilson Disease KayserFleischerrings, liver disease, neurological symptoms Hemochromatosis Liver cirrhosis, diabetes, bronze skin pigmentation Glycogen Storage Disease Hypoglycemia, hepatomegaly, muscle cramps Gastrointestinal and Hepatic System Syndromes Syndrome Key Differentiating Features Familial Polyposis Coli Multiple colorectal polyps, increased risk of colorectal cancer Gilbert Syndrome Mild jaundice, elevated bilirubin levels, often asymptomatic Urinary System Syndromes Syndrome Key Differentiating Features Polycystic Kidney Disease Enlarged kidneys with multiple cysts, hypertension, renal failure Alport Syndrome Hematuria, hearing loss, ocular abnormalities Ocular System Syndromes Syndrome Key Differentiating Features Congenital Cataract Lens opacity, poor vision, nystagmus
  • 45.
    44 Glaucoma Enlarged eye,corneal clouding, tearing Albinism Hypopigmentation of skin/hair, vision problems, photophobia Retinoblastoma Leukocoria, strabismus, eye pain Lowe Syndrome Congenital cataracts, glaucoma, renal tubular dysfunction Ocular Albinism Reduced pigmentation in iris/retina, nystagmus, reduced visual acuity