II. 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

III. Risk factors

  1. Paternal age >35 years
  2. Family History

IV. Clinical findings

V. Associated conditions

  1. Cleft Palate
  2. Chiari 1 Malformation
  3. Ear disorders
  4. Cervical Spine disorders

VI. References

  1. Johnston in Behrman (2004) Nelson Pediatrics, p. 1992-3
  2. Kabbani (2004) Am Fam Physician 69:2863-70 [PubMed]

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