Crouzon syndrome

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Presentation about Crouzon syndrome.

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Crouzon syndrome

  1. 1. Crouzon syndrome
  2. 2. Overview  Named after Octave Crouzon, a French Neurologist who first described this disorder in 1912. Octave Crouzon (1874-1938)
  3. 3. Epidemiology  Estimated birth prevalence ranges from 1 per 25,000 births to 1 per 67,000 births  Accounts for 5% of all cases of craniosynostosis  Almost 60% of cases are new mutations  Associated with paternal age > 35 years
  4. 4. Hereditary  Autosomal dominant  Gene mutation in the Fibroblast Growth Factor Receptor II , located on chromosome 10.
  5. 5. Physical Findings  Tall, flattened forehead (secondary to bicoronal synostosis)  Brachycephaly (disproportionately wide head)  Exophthalmos (due to shallow eye sockets after early fusion of surrounding bones)  Hypertelorism (greater than normal distance between the eyes )  Maxillary hypoplasia (insufficient growth of the midface)  Beaked nose  Low-set ears  Ear canal malformations
  6. 6. Complications  Intracranial abnormalities: Elevated intracranial pressure Hydrocephalus Tonsillar herniation [Chiari malformations] Jugular foramen stenosis  Visual impairments: Disc edema Optic atrophy Progressive optic nerve dysfunction  Dental abnormalities
  7. 7. Diagnosis  Physical exam, usually at birth  CT scan  Measuring intracranial pressure  FGFR mutational screening
  8. 8. Special considerations  Cervical spine abnormalities present in up to one-third of patients. **must be thoroughly evaluated before surgical correction of Craniosynostosis.
  9. 9. Treatment  Surgery - to prevent the closure of sutures of the skull from damaging the brain's development. - should be done as early as possible for optimal results
  10. 10. THANK YOU
  11. 11. References 1. Renier D, Lajeunie E, Arnaud E, Marchac D. Management of craniosynostoses. Childs Nerv Syst. 2000 Nov;16(10-11):645-58. 2. Persing JA. MOC-PS(SM) CME article: management considerations in the treatment of craniosynostosis. Plast Reconstr Surg. 2008 Apr;121(4 Suppl):1-11. 3. Katzen JT, McCarthy JG. Syndromes involving craniosynostosis and midface hypoplasia. Otolaryngol Clin North Am. 2000 Dec;33(6):1257-84. 4. Kabbani H, Raghuveer TS. Craniosynostosis. Am Fam Physician. 2004 Jun 15;69(12):2863- 70. EBSCOhost Full Text full-text

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