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小头畸形与手指异常:一种新发现的隐性遗传性智力障碍综合征。

Microcephaly and digital anomalies: a newly recognized syndrome of recessively inherited mental retardation.

作者信息

Kelly T E, Kirson L, Wyatt J

机构信息

Division of Medical Genetics, University of Virginia School of Medicine, Charlottesville.

出版信息

Am J Med Genet. 1993 Feb 1;45(3):353-5. doi: 10.1002/ajmg.1320450313.

Abstract

We describe 2 brothers with congenital microcephaly and moderately severe mental retardation. The presence of identical and symmetrical digital anomalies suggests that this constellation represents a clinically recognizable recessively inherited mental retardation syndrome. Recognition of the clinical diagnosis should provide accurate genetic counseling to parents of a single affected child.

摘要

我们描述了2名患有先天性小头畸形和中度严重智力障碍的兄弟。相同且对称的手指异常表明,这一系列症状代表了一种临床上可识别的隐性遗传智力障碍综合征。认识到这种临床诊断应为单一患病儿童的父母提供准确的遗传咨询。

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