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并指畸形、外胚层发育不良与唇腭裂综合征:来自土耳其的两例同胞病例报告

Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey.

作者信息

Oğur G, Yüksel M

机构信息

Institute of Child Health, University of Istanbul, Capa/Istanbul, Turkey.

出版信息

J Med Genet. 1988 Jan;25(1):37-40.

Abstract

Two Turkish sibs, products of a second cousin marriage, with tetramelic syndactyly, ectodermal dysplasia, cleft lip and palate, renal anomalies, and mental retardation are reported. Similarities between these two brothers and previously reported cases and their mode of transmission are discussed.

摘要

报道了两名土耳其同胞兄弟,他们是近亲结婚的后代,患有四肢并指(趾)畸形、外胚层发育不良、唇腭裂、肾脏异常和智力发育迟缓。讨论了这两名兄弟与先前报道病例之间的相似之处及其遗传方式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d366/1015420/00c7954b1dc8/jmedgene00063-0047-a.jpg

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