Neonatology Book

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Crouzon's Disease

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  1. See Also
    1. Craniosynostosis
  2. 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
  3. Risk factors
    1. Paternal age >35 years
    2. Family History
  4. Clinical findings
    1. Brachycephaly (Craniosynostosis)
    2. Hypertelorism
    3. Proptosis
    4. Maxillary Hypoplasia
    5. Beaked nose
  5. Associated conditions
    1. Cleft Palate
    2. Chiari 1 Malformation
    3. Ear disorders
    4. Cervical spine disorders
  6. References
    1. Johnston in Behrman (2004) Nelson Pediatrics, p. 1992-3
    2. Kabbani (2004) Am Fam Physician 69:2863

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