Yim–Ebbin syndrome
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| Yim–Ebbin syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | none |
| ICD-9-CM | none |
| OMIM | 601357 |
| Patient UK | Yim–Ebbin syndrome |
| MeSH | C536713 |
Yim–Ebbin syndrome is a congenital disorder characterized by the absence of arms, a cleft lip and palate, hydrocephalus, and an iris coloboma.[1] It was first described by Yim and Ebbin in 1982,[2] and later by Thomas and Donnai in 1994.[3] In 1996, a third case was reported by Froster et al. who suggested that the three cases were related and represented a distinct syndrome.[4] In 2000, a similar case was reported by Pierri et al.[5]
It is also known as "amelia cleft lip palate hydrocephalus iris coloboma".[1]
References
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External links
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