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无相关特征的EEC综合征?一个轻症EEC综合征家族的报告。

EEC syndrome sine sine? Report of a family with oligosymptomatic EEC syndrome.

作者信息

Majewski F, Küster W

机构信息

Institute of Human Genetics, University of Düsseldorf, Federal Republic of Germany.

出版信息

Clin Genet. 1988 Feb;33(2):69-72.

PMID:3359668
Abstract

We report a family with oligosymptomatic EEC syndrome. Whereas the mother had most symptoms of this syndrome, one son presented a minimal ectrodactyly and a highly arched palate and one daughter showed only a unilateral stiff thumb. The variability of this syndrome is discussed. The penetrance of this dominantly inherited disorder is judged to be reduced to about 78%.

摘要

我们报告了一个患有轻症型EEC综合征的家族。母亲有该综合征的大多数症状,一个儿子表现为轻度缺指畸形和高拱腭,一个女儿仅表现为单侧拇指僵硬。本文讨论了该综合征的变异性。这种常染色体显性遗传病的外显率估计约为78%。

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