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一种常染色体显性遗传综合征,表现为面部不对称、内斜视、弱视和黏膜下腭裂(本采综合征)。

An autosomal dominantly inherited syndrome of facial asymmetry, esotropia, amblyopia, and submucous cleft palate (Bencze syndrome).

作者信息

Kurnit D, Hall J G, Shurtleff D B, Cohen M M

出版信息

Clin Genet. 1979 Nov;16(5):301-4. doi: 10.1111/j.1399-0004.1979.tb01006.x.

Abstract

This is the second report of a dominantly inherited syndrome of facial asymmetry, esotropia, and amblyopia (Bencze syndrome). The phenotypic spectrum is expanded to include submucous cleft palate. The observation for the first time of male-to-male transmission seems to confirm an autosomal dominant mode of inheritance. The facial asymmetry in this family was mild and did not require surgical intervention. With the exception of one patient who had other abnormalities, intelligence was normal.

摘要

这是关于一种以面部不对称、内斜视和弱视为主的显性遗传综合征(本采综合征)的第二篇报告。其表型谱扩展至包括黏膜下腭裂。首次观察到男性向男性的传递,这似乎证实了常染色体显性遗传模式。该家族中的面部不对称症状较轻,无需手术干预。除一名有其他异常情况的患者外,智力均正常。

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