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一种新的多发性先天性异常、智力发育迟缓综合征,伴有轴前短指畸形、多指畸形、耳聋和口腔牙齿异常。

A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies.

作者信息

Temtamy S A, Meguid N A, Ismail S I, Ramzy M I

机构信息

Department of Human Genetics, National Research Center, El-Dokki, Cairo, Egypt.

出版信息

Clin Dysmorphol. 1998 Oct;7(4):249-55. doi: 10.1097/00019605-199810000-00003.

Abstract

We report on a child with a 'new' syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, bilateral symmetrical digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism of digits I-III. Because he had a similarly affected brother and his parents were cousins we suggest autosomal recessive inheritance, X-linked recessive inheritance cannot be excluded. Differential diagnosis from other syndromes with preaxial brachydactyly and hyperphalangism is presented.

摘要

我们报告了一名患有“新型”综合征的儿童,其特征为多发性先天性畸形、智力发育迟缓、感音神经性耳聋、上颌中切牙呈爪状尖、生长发育迟缓、双侧对称性手指异常,主要表现为轴前短指畸形和第I - III指多指畸形。由于他有一个情况类似的兄弟且其父母为近亲,我们推测为常染色体隐性遗传,但不能排除X连锁隐性遗传。文中还介绍了与其他伴有轴前短指畸形和多指畸形的综合征的鉴别诊断。

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