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Transcript of Crouzon syndrome:
Is a genetic disorder resulted in premature fusion of the sutures of the skull leading to abnormal growth of the skull bones (Craniosynotosis).
Crouzon syndrome is seen in about 16 per million newborns and It is the most common craniosynostosis syndrome.
Hospital-based,(2002-2009) in the Cleft Lip/Palate and Craniofacial Anomalies Registry at King Faisal Specialist Hospital and Research Center: Of the 447 craniofacial patients 18 of them (27.7%) had crouzon syndrome
FGFR2 gene on chromosome 10
This gene is responsible for making a protein that signals immature cells to become bone cells during embryonic development. So, the mutation is overstimulation of the signaling which leads to the premature fusion.
FGFR-3, located on chromosome 4
abnormal skin pigmentation.
Language and cognition:
- Hypernasality :
due to velopharyngeal insufficiency.
less commonly occur, due to nasal obstruction
due to the development of vocal cord nodules