Crouzon syndrome
From WikiCNS
- Autosomal dominant with variable types and degrees of craniosynostosis
- 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
- Distinguish from Apert’s syndrome:
- 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