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Craniosynostosis
This document provides information on craniosynostosis, including: 1. It is a premature fusion of one or more cranial sutures, restricting skull growth. 2. Brain growth is rapid in early childhood, requiring open sutures for proper skull expansion. 3. Diagnosis involves clinical exam, imaging like CT/MRI to identify fused sutures. 4. Treatment is early surgery to release fused sutures and reconstruct the skull to allow for brain growth.
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Craniosynostosis is a pathological condition from the premature fusion of cranial sutures, leading to deformities.
At term, brain volume is 40% of adult size, growing to 80% by age 3, while cranial size reaches 90% by age 7.
Sutures facilitate perpendicular growth related to brain expansion, with critical closure timelines and patterns.
Otto first used the term craniosynostosis in 1830; notable contributions from Virchow, Lane, and Tessier in surgery.
Multiple theories exist on the causes, including restriction of growth and functional matrix theory.
Animal studies show cranial vault abnormalities can be artificially created through sutural fusion.
Incidence ranges from 1 in 1,800 to 2,200 births, varying by type and sex: sagittal and metopic are common in males.
Craniosynostosis can be primary or secondary; includes nonsyndromic and syndromic categories, with varied implications.
10-20% of craniosynostosis cases are syndromic, including Crouzon's syndrome with genetic links.
Apert’s syndrome is noted for hand involvement; various syndromes have distinct clinical features.
Describes common types like scaphocephaly and plagiocephaly, their incidence rates, and characteristics.
Diagnosis involves clinical history, examinations, and imaging studies emphasizing the importance of early detection.
Craniosynostosis leads to complications such as intracranial hypertension, feeding issues, and mental delays.
Various imaging modalities including plain films, ultrasound, CT, MRI, and their roles in diagnosing craniosynostosis.
Management can be surgical or conservative, with surgery aiming for normalization and functional improvement. Early intervention is crucial; discusses the choice of surgical techniques for various types of craniosynostosis.
Postoperative follow-up entails monitoring speech, feeding, and genetic counseling for comprehensive care.
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Craniosynostosis
- 1.
- 2. • Pathological conditionthat results from premature fusion of one or more sutures in the cranial vault. • Associated with a deformity of the vault and cranial base.
- 3. BRAIN GROWTH • Atterm has nearly 40 percent of his or her adult brain volume. • This increases to 80 percent by three years of age. • Continues to grow until the age of 12 yrs
- 4. THE CRANIUM • Atterm is 40 percent of adult size; • By seven years, this increases to 90 percent.
- 5. SUTURE GROWTH • Suturesallow growth perpendicular to them • Growth at suture lines related to brain growth • In 1851, Virchow described how skull growth is restricted to a plane perpendicular to the affected, prematurely fused suture and is enhanced in a plane parallel to it.
- 8. Mature suture closureoccurs by 12 years of age, but completion continues into the third decade of life and beyond. Timing of Closure of Sutures and Fontanelles Type of suture Time to closure Metopic suture Nine months to two years (may persist into adulthood) Coronal, sagittal, 3rd decade of life lambdoid sutures
- 9. IN HUMANS, THESEQUENCE OF FONTANELLE CLOSURE IS AS FOLLOWS: 1) posterior fontanelle generally closes 2-3 months after birth 2) sphenoidal fontanelle is the next to close around 6 months after birth 3) mastoid fontanelle closes next from 6-18 months after birth 4) the anterior fontanelle is generally the last to close between 1-3 years of age
- 10. HISTORY AND PATHOGENESIS •Otto ( 1830) coined the term craniosynostosis. • Virchow : Classified the different types of skull deformity. • L.C. Lane: 1st surgical procedure to release stenosed suture • Lannelogue (1890) :- performed B/L strip craniectomies • Paul Tessier - father of modern craniofacial Surgery. - First to attempt major surgical procedures on the craniofacial skeleton.
- 11. THEORIES OF CRANOISYNOSTOSIS •Sommering( 1839)– Noted that bone growth in skull primarily occurs at suture line and if it prematurely fused, an abnormal skull shape developed and skull growth restricted. • Virchow(1821) and Otto(1830)- Similar observation were made and they noted restriction of growth adjacent to suture and compensatory growth occurred at elsewhere in skull to accommodate growing brain .
- 13. THEORIES OF CRANIOSYNOSTOSIS •Moss(1959) – Described functional matrix theory. According to this theory cranial base abnormality was the primary pathological process and cranial vault suture abnormality was secondary as cranial base mature embryologically before cranial vault. • Persson (1979) – Cranial vault suture pathology may be primary in the development of synostosis leading to cranial base and facial deformity.
- 14. • Animal studies Thecranial vault abnormalities typical of synostosis can be produced with experimental fusion of developing cranial vault sutures. • 1. Persing JA, Babler WJ, Jane JA, et al. Experimental unilateral coronal synostosis in rabbits. Plast Reconstr Surg. 1986;77:369–376.
- 15. INCIDENCE • One per1,800 to 2,200 live births • Males - Sagittal and metopic stenosis • Females - Coronal
- 16. Classification of Craniosynostosis Primary Simple Nonsyndromic:sagittal, coronal, metopic, lambdoid Compound Nonsyndromic: bicoronal Syndromic: Crouzons disease, Apert’s syndrome, Pfeiffer’s disease, Saethre-Chot.zen syndrome Secondary Metabolic disorders (e.g., hyperthyroidism) Malformations (e.g., holoprosencephaly, microc ephaly, shunted hydrocephalus, encephalocele) Exposure of fetus (e.g.. valproic acid, phenytoin) Mucopolysaccharidosis (e.g.. Hurler’s syndrome, Morquios syndrome)
- 17. PRIMARY VS SECONDARY 17 •Primary defect of ossification • suture growth is altered • head frequently asymmetric • the brain continues to grow in areas where sutures are open • most individuals are normal neurologically • benefit from surgery • Secondary to brain malformation • Head symmetric • growth of brain is impaired • neurologically abnormal • usually No benifit of surgery
- 20. CRANIOSYNOSTOSIS SYNDROMES • 10-20 %of cases • Autosomal Dominant • Linked to Chromosome 10 • Multi-sutural, complex case • If a suture is fused, check hands, feet, big toe and thumb
- 22.
- 23. CROUZON’S • Autosomal -dominant pattern. • One of every 25,000 live births • 5 percent of cases of craniosynostosis. • Numerous missense mutations in the Ig III domain of the FGFR2 gene have been implicated
- 24. CLINICAL FINDINGS • classictriad 1. bilateral coronal synostosis 2. midfacial hypoplasia 3. exophthalmos.
- 25.
- 26. APERT’S -“CROUZON’S WITHHAND INVOLVEMENT” •1 in 55,000 • Varying intellect (50 % with MR) • syndactyly • Cervical vertebral anomalies • Rare hydrocephalus
- 27. PFEIFFER SYNDROME • 1in 2 lakhs • Clover leaf skull in 20% • Broad thumbs, broad great toes • Intelligence is reported to be normal
- 29. CLOVERLEAF SKULL DEFORMITY (TRIPHYLLOCEPHALY) •(Derived from the Greek word triphyllos, meaning trefoil, with 3 leaves), • Multiple suture synostosis • Head shaped like a cloverleaf • Three bulges-two temporal and top • Pronounced constrictions in both sylvian fissures
- 30. NON SYNDROMIC -1.SAGITTAL- SCAPHOCEPHALY • most common form of craniosynostosis • occurs at a rate of 1 in 5000 children • male-to-female ratio of 3.5 : 1
- 31. 2. CORONAL -PLAGIOCEPHALY • Greek word plagios, meaning oblique or sloping, and corresponds to unilateral coronal synostosis. • 10-20% -second most common sutural fusion and occurs at a rate of 1 in 10,000 children • male-to-female ratio of 1 : 2. • Posterior plagiocephaly corresponds to lambdoid synostosis. 1.3%
- 32. Ipsilateral frontal bossing Ipsilateral ear displaced anteriorly Ipsilateraloccipitoparietal flattening Contralateral occipital bossing .
- 33. 3.METOPIC - TRIGONOCEPHALY •Derived from the Greek word trigonos, meaning triangular • 5 → 10% incidence - 1 out of 10,000 to 15,000 live births • male-to-female ratio of 3.3 : 1
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- 35.
- 36. 4 BILATERAL CORONAL- BRACHYCEPHALY • Greek word brachys, meaning short. • Usually syndromic ,sometimes sporadic
- 37. Bilateral coronal synostosisresults in a prominent frontal bone, flattened occiput. and anterior displacement of the skull vertex.
- 38. FREQUENCY Sagittal→ 45%-50% Unilateral coronal→15% Metopic synostosis→ 5% Lambdoid→1.3%
- 39. DIAGNOSIS 1. Clinical history 2.Physical examination 3. Radiographic studies
- 40. • Passage ofthe head through the birth canal deforms the head. This shape is retained for 2-3 weeks postnatally. • Early diagnosis is important The brain grows rapidly during this period Delay only worsens the deformity of the head shape.
- 41. • Birth, sleepingposition. • Head tilt, torticollis deformational plagiocephaly • Family history Abnormal head shape or multiple systemic problems (eg,cardiac, genitourinary, musculoskeletal) Detailed history
- 42. CLINICAL EXAM • Headshape (from above, side) • Ear and facial symmetry • Palpate suture lines & fontanelles • Look for ridging • Look for associated anomalies • If a suture is fused, check hands, feet, big toe and thumb
- 43. FUNCTIONAL CONSEQUENCES -INTRACRANIAL HYPERTENSION • 4-20%: single suture craniosynostosis • 42-60 % : multiple suture/syndromic craniosynostosis • Neurologic symptoms of elevated ICP ( Headaches, vomiting, sleep disturbances, feeding difficulties, behavioral changes, and diminished cognitive function). • If ICP : 10 – 15 mmhg were considered borderline • > 15 mmhg abnormal • Causes- abnormal venous drainage - respiratory obstruction - chiari malformations
- 44. HYDROCEPHALOUS • 4% to18% • Communicating • ?causes • multiple-suture craniosynostosis >> nonsyndromic single suture craniosynostosis. Causes- 1. Cerebral maldevelopment 2. Brain atrophy 3. Abnormal csf circulation 4. venous outflow obstruction 5. Hind brain herniation 6. Aqueductal stenosis
- 45. RESPIRATORY ABNORMALITIES • Syndromiccraniosynostosis • Manifest during sleep • Maxillary hypoplasia, choanal stenosis, tonsillar hypertrophy • Nasal stents, tonsillectomy or tracheostomy • Nocturnal CPAP • Surgical correction of midfacial hypoplasia
- 46. FEEDING • Abnormalities ofpalatal shape and movement • Disordered dentition • Dental malocclusion • Nasogastric tube or gastrostomy
- 47. VISION • Chronically raisedICP-----papilloedema----optic atrophy (Crouzon syndrome) • Shallow orbits ---------exposure • Primary optic atrophy: compression, traction • Early craniectomy
- 48. MENTAL DELAY • Mentaloutcome varies widely among patients with syndromic craniosynostosis . • Mental retardation common in Apert’s syndrome & in some patients with Pfeiffer’s syndrome • The proportion of children with developmental and behavioral problems at first consultation increases with age. • patients who undergo surgery before the age of 1 year have better developmental scores than do those who undergo surgery after the age of 1 year.
- 49. PLAIN FILMS • Simpleand inexpensive, • Absent or line of increased density • Harlequin appearence→coronal • Cannot differentiate Lambdoid synostosis and deformational plagiocephaly (plagiocephaly without synostosis). • To visualize all the sutures, special Waters views must be taken.
- 50. ULTRASOUND • Noninvasive More effectivethan plain skull radiographs in detecting fused sutures • Accuracy depends on a reliable and experienced operator.
- 51. CT SCAN • Standardfor the complete visualization of the skull and cranial sutures. • Detailed anatomy of the calvaria and the brain parenchyma • Document effect of corrective surgery
- 52. MRI • Complex craniosynostosis •Improved definition of intracranial soft tissue structures • Hindbrain herniation • Identify sites of respiratory obstruction
- 53. RADIO ISOTOPE SCANNING •Diminished uptake→ complete fusion
- 54. ICP MONITORING • Radiologicalsigns inconclusive • Deciding nature and timing of surgery • Features of ↑ ICT Mean pressure > 15 mm Hg Raised base line value Prolonged plateau wave
- 55. MANAGEMENT • Surgery vs.Conservative Management
- 56. GOAL • Normalization ofdeviated appearance, growth and function of skull • Keep the suture open till brain growth is complete
- 57. INDICATIONS • Correction ofcosmetic abnormality • Early treatment of intracranial hypertension • Optimizing brain growth • Severe proptosis and impending corneal damage • upward and caudal cerebellar tocillar herniation ,hindbrain compression and distortion
- 58. TIMING OF SURGERY Earlyoperation(3-6 months) • Rapid brain growth reshape bone • Better compliance of brain dura and scalp • Calvarium in an infant aged 3-9 months is much more malleable, easier to shape and providing a better outcome.
- 59. • Surgical interventionshould be performed during infancy, preferably in the first 6 months of postnatal life, to prevent the further progression of the deformity and possible complications associated with increased intracranial pressure.
- 60. LATE INTERVENTION • Closerthe cranium is to the adult size, the less overcorrection for reconstruction and the better the ultimate skull shape. • Higher risk of recurrent deformity • Surgical correction more complex
- 61.
- 62. BASIC MECHANISMS Passive reshapement 1.Generous removal of bone 2. Strip craniectomy 3. Morcellation Active reshapement 1. Fronto orbital advancement 2. Cranial vault reshapement
- 63. INCISION • Zigzag bicoronalincision • Prevents parting of the hair along a straight line • Scar tends to spread less - redistribution of the forces. • Incision begins slightly anterior and superior to the helix of the ear. • Electrocautery is used cautiously
- 65. SAGITTAL CRANIOSYNOSTOSIS • Objectives •Correction of scaphocephaly • Frontal bossing and occipital protrusion • Initial surgical procedures included a narrow-strip craniectomy→ higher restenosis . • Wider and more extensive craniectomy Do not address the frontal bossing and occipital bathrocephaly relied on the growing brain to correct these deformities.
- 67.
- 68. BILATERAL CORONAL STENOSIS •Extended bicoronal craniectomies with reconstruction of the forehead. • The supraorbital bar or brow is reshaped and advanced forward with the forehead. • The reconstructed forehead and brow are rigidly fixed to the nose and lateral orbits with microplates.
- 69.
- 70. SYNDROMIC CRANIOSYNOSTOSIS Current surgicaltreatment approach • Initial fronto-orbital and cranial vault remodeling, • A midface advancement procedure with or without distraction (Le Fort III or monobloc) • Secondary orthognathic surgery To correct any dentofacial deformities (Le Fort I, mandibular osteotomies)
- 71.
- 72. LONG TERM FOLLOW-UP •Speech • Genetic Counseling • Feeding / Swallowing • Ophthalmology evaluation
- 73.