Medicine:Craniorhiny
From HandWiki
| Craniorhiny | |
|---|---|
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| Autosomal dominant inheritance |
Craniorhiny is a rare autosomal dominant syndrome characterized by craniosynostosis (oxycephaly) and facial anomalies around the nose base and lips.[1][2]
Signs and symptoms
Features of this condition include:[1][3]
- Head or neck: anteverted nares, wide nose, recessed forehead
- Integument: nasal hirsutism
- Musculoskeletal system: craniosynotosis, oxycephaly/turricephaly
Infranasal spherical cyst-like formations with fistulas have also been seen.[3]
History
The first (and only confirmed) reports of this condition was made in 1991, seen in a father and son. Two siblings reported in 2007 are also speculated to have the condition.[2]
References
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