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后鼻孔闭锁作为裂手裂足-外胚层发育不良-腭裂(EEC)综合征的一项特征。

Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.

作者信息

Christodoulou J, McDougall P N, Sheffield L J

机构信息

Department of Genetics, Royal Children's Hospital, Parkville, Victoria, Australia.

出版信息

J Med Genet. 1989 Sep;26(9):586-9. doi: 10.1136/jmg.26.9.586.

Abstract

We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been previously reported in this condition.

摘要

我们在此报告一对父女,他们患有手指异常、鼻泪管阻塞和不同程度的脱发。父亲患有唇腭裂,女儿患有后鼻孔闭锁。我们认为他们都患有EEC综合征,并显示出这种疾病的可变表达性。此前尚未有关于这种情况下出现后鼻孔闭锁的报道。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b8d/1015700/a6e8a5466b05/jmedgene00059-0042-a.jpg

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