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Yim–Ebbin syndrome : ウィキペディア英語版
Yim–Ebbin syndrome

Yim–Ebbin syndrome is a congenital disorder characterized by the absence of arms, a cleft lip and palate, hydrocephalus, and an iris coloboma.〔(【引用サイトリンク】 title=MeSH Supplementary Concept Data )〕 It was first described by Yim and Ebbin in 1982, and later by Thomas and Donnai in 1994. In 1996, a third case was reported by Froster et al. who suggested that the three cases were related and represented a distinct syndrome. In 2000, a similar case was reported by Pierri et al.
It is also known as "amelia cleft lip palate hydrocephalus iris coloboma".〔
==References==


抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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