craniofacial-deafness-hand syndrome
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Genetics
- autosomal dominant
- associated with defects in PAX3
Clinical manifestations
- absence or hypoplasia of the nasal bones
- hypoplastic maxilla
- small & short nose with thin nares
- limited movement of the wrist
- short palpebral fissures
- ulnar deviation of the fingers
- hypertelorism
- profound sensorineural deafness