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面部肌无力和少指(趾)畸形:莫比乌斯综合征家族型的独立可变特征?

Facial weakness and oligosyndactyly: ? independent variable features of familial type of the Möbius syndrome.

作者信息

Mitter N S, Chudley A E

出版信息

Clin Genet. 1983 Nov;24(5):350-4.

PMID:6652945
Abstract

A family consisting of two daughters, one with an isolated oligosyndactyly and the other with the Möbius Syndrome (VIth and VIIth nerve dysplasia) is presented. The majority of the individuals previously reported with an association of occulo-facial diplegia and limb anomalies have been sporadic. However, on examination of the parents in the family we report, the mother was found to have bilateral facial weakness. Isolated limb anomalies may, therefore, be a variable expression of a broad spectrum type of the Möbius Syndrome, with an autosomal dominant mode of inheritance.

摘要

本文报告了一个家庭,该家庭中有两个女儿,一个患有单纯性多指(趾)畸形,另一个患有莫比乌斯综合征(第六和第七脑神经发育不全)。先前报道的大多数患有眼面部双瘫和肢体异常的个体都是散发性的。然而,在对我们所报告家庭的父母进行检查时,发现母亲有双侧面部无力。因此,单纯性肢体异常可能是莫比乌斯综合征广泛谱系类型的一种可变表现形式,具有常染色体显性遗传模式。

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