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[一种伴有短指、肱桡关节融合及其他多处关节发育异常的复杂并指(趾)畸形综合征]

[A complex symphalangia syndrome with brachydactyly, humeroradial synostosis and other multiple joint dysplasias].

作者信息

Schumacher K A, Wolf M, Friedrich J M

机构信息

Abteilung Radiologie I der Universität Ulm.

出版信息

Rontgenblatter. 1988 May;41(5):211-4.

PMID:3393818
Abstract

Two members of a family affected with autosomal dominant multiple synostosis syndrome and malformations of various joints are presented, the most prominent signs being humeroradial synostosis and symphalangism. Moreover, dysplastic hip joints and familial conductive deafness as well as craniofacial abnormalities are observed. The present report may serve as an introduction to the complex radiological pattern in patients with hereditary brachydactyly syndrome.

摘要

本文介绍了一个患有常染色体显性遗传多发性关节强直综合征及多种关节畸形的家族中的两名成员,最显著的体征是肱桡关节融合和指骨联合。此外,还观察到髋关节发育不良、家族性传导性耳聋以及颅面异常。本报告可作为遗传性短指综合征患者复杂放射学表现的介绍。

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