Crouzon syndrome

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  1. Autosomal dominant with variable types and degrees of craniosynostosis
  2. Broad forehead, widely spaced eyes, cleft nose, hypoplastic maxilla, dermoids and teratomas, heterotypic anterior frontal fontanel, strabismus and epibulbar dermoids, mild to severe mental retardation, hydrocephalus is rare
  3. Distinguish from Apert’s syndrome:
    1. also transmitted autosomal dominant with similar craniosynostosis pattern but also accompanied by syndactyly of digits 2,3, and 4, shortened upper extremities, mental retardation, deafness, convulsions, and commonly hydrocephalus
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