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Crouzon syndrome:

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by

ghalia z

on 12 October 2014

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Transcript of Crouzon syndrome:

Crouzon syndrome:

Definition:
Is a genetic disorder resulted in premature fusion of the sutures of the skull leading to abnormal growth of the skull bones (Craniosynotosis).

Prevalence:
United states:
Crouzon syndrome is seen in about 16 per million newborns and It is the most common craniosynostosis syndrome.
Saudi Arabia:
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

Causes:
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.
Physical features:
Language and cognition:
Articulation:
Voice Problems
- Hypernasality :
due to velopharyngeal insufficiency.
- Hyponasality:
less commonly occur, due to nasal obstruction
-Hoarseness :
due to the development of vocal cord nodules
Psychosocial-Emotional Problems:
Feeding problems:
Refrences:
Full transcript