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唇腭裂、下唇凹陷和肢体缺损缺陷。

Cleft lip and palate, lower lip pits, and limb deficiency defects.

作者信息

Küster W, Lambrecht J T

机构信息

Department of Dermatology, University of Düsseldorf, FRG.

出版信息

J Med Genet. 1988 Aug;25(8):565-7. doi: 10.1136/jmg.25.8.565.

Abstract

Cleft lip or palate and lower lip pits are typical features of the autosomal dominantly inherited Van der Woude syndrome. Limb defects have not been reported in this syndrome so far. A girl with a unilateral complete cleft lip and palate, bilateral lower lip pits, and amniotic deformities of all four limbs is reported and the possibility of chance occurrence of cleft lip and palate, lower lip pits, and limb defects is discussed.

摘要

唇腭裂和下唇凹陷是常染色体显性遗传的范德伍德综合征的典型特征。迄今为止,该综合征尚未有肢体缺陷的报道。本文报告了一名患有单侧完全性唇腭裂、双侧下唇凹陷以及四肢羊膜畸形的女孩,并讨论了唇腭裂、下唇凹陷和肢体缺陷偶然同时出现的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff6c/1080036/b4a42bc44f39/jmedgene00070-0061-a.jpg

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