Neuro

Crouzon's Disease

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Crouzon's Disease

  • See Also
  1. Craniosynostosis
  • Epidemiology
  1. Autosomal Dominant: FGFR2 gene, Chromosome 10
  2. More than half of cases are new mutations
  3. Incidence: 1 in 25,000 live births
  4. Causes 5% of Craniosynostosis cases
  • Risk factors
  1. Paternal age >35 years
  2. Family History
  • Clinical findings
  1. Brachycephaly (Craniosynostosis)
  2. Hypertelorism
  3. Proptosis
  4. Maxillary Hypoplasia
  5. Beaked nose
  • Associated conditions
  1. Cleft Palate
  2. Chiari 1 Malformation
  3. Ear disorders
  4. Cervical Spine disorders
  • References
  1. Johnston in Behrman (2004) Nelson Pediatrics, p. 1992-3
  2. Kabbani (2004) Am Fam Physician 69:2863-70 [PubMed]