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常染色体显性遗传所致的家族性半侧颜面短小畸形。病例报告。

Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports.

作者信息

Singer S L, Haan E, Slee J, Goldblatt J

机构信息

Dental Department, Princess Margaret Hospital, Perth, Western Australia.

出版信息

Aust Dent J. 1994 Oct;39(5):287-91. doi: 10.1111/j.1834-7819.1994.tb05564.x.

Abstract

Hemifacial microsomia is a rare dentofacial anomaly which is regarded as a separate entity to Goldenhar syndrome and primarily affects the structures of the first branchial arch. It has a heterogeneous aetiology and tends to occur sporadically, though positive family histories have been reported. This paper reports on individuals in two generations of a family that has overlapping features of hemifacial microsomia and Goldenhar syndrome segregating as an autosomal dominant condition.

摘要

半侧颜面短小是一种罕见的牙颌面畸形,被视为与Goldenhar综合征不同的独立病症,主要影响第一鳃弓结构。其病因具有异质性,虽有家族史阳性的报道,但多为散发性。本文报告了一个家族两代人中的个体,该家族具有半侧颜面短小和Goldenhar综合征的重叠特征,呈常染色体显性遗传。

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