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来自巴西巴伊亚两个家族的隐眼畸形。

Cryptophthalmos in two families from Bahia, Brazil.

作者信息

Azevêdo E S, Biondi J, Ramalho L M

出版信息

J Med Genet. 1973 Dec;10(4):389-92. doi: 10.1136/jmg.10.4.389.

Abstract

Two families with cryptophthalmos are reported. Both families came from the same town in Bahia State, Brazil. Consanguinity was known between the parents themselves, but not between the individual families reported here. However, a common ancestor for both families is very likely because the four parents were born in the same `municipio'. There was one affected girl in family 1 and four affected sibs in family 2. A pair of affected monozygotic twins and a case of possible low expressivity of the syndrome are described in family 2.

摘要

报告了两个患有隐眼畸形的家庭。这两个家庭都来自巴西巴伊亚州的同一个城镇。已知父母之间存在血缘关系,但此处报告的各个家庭之间不存在血缘关系。然而,这两个家庭很可能有一个共同的祖先,因为四位父母都出生在同一个“市”。家庭1中有一名患病女孩,家庭2中有四名患病同胞。家庭2中描述了一对患病的同卵双胞胎以及一例该综合征可能低外显率的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f7eb/1013063/996afe8a38e7/jmedgene00325-0082-a.jpg

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