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一个大家庭中的Greig头多指(趾)综合征:临床体征与文献描述的比较

Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature.

作者信息

Ausems M G, Ippel P F, Renardel de Lavalette P A

机构信息

Clinical Genetics Center Utrecht, The Netherlands.

出版信息

Clin Dysmorphol. 1994 Jan;3(1):21-30.

PMID:8205322
Abstract

We report on a four generation family with Greig cephalopolysyndactyly syndrome. The clinical variability of the malformations of hands and feet is described. A review of the literature is given, with emphasis on the frequency of clinical signs of the Greig cephalopolysyndactyly syndrome. Polydactyly of the hands and feet are possibly an underestimated feature in Greig syndrome. We suggest that radiographs of the hands and feet should be performed in every patient, especially those with broad thumbs. The resemblance of preaxial polydactyly type 4 and crossed polydactyly with Greig syndrome is discussed. These disorders may be allelic.

摘要

我们报告了一个患有Greig头多指(趾)并指(趾)综合征的四代家族。描述了手足畸形的临床变异性。对文献进行了综述,重点关注Greig头多指(趾)并指(趾)综合征临床体征的出现频率。手足多指(趾)畸形在Greig综合征中可能是一个被低估的特征。我们建议对每位患者,尤其是那些有宽阔拇指的患者,都应拍摄手足的X光片。讨论了4型轴前多指(趾)畸形和交叉多指(趾)畸形与Greig综合征的相似之处。这些病症可能是等位基因所致。

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