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辛普森-戈拉比-贝梅尔综合征I型和II型

Simpson-Golabi-Behmel syndrome types I and II.

作者信息

Tenorio Jair, Arias Pedro, Martínez-Glez Víctor, Santos Fernando, García-Miñaur Sixto, Nevado Julián, Lapunzina Pablo

出版信息

Orphanet J Rare Dis. 2014 Sep 20;9:138. doi: 10.1186/s13023-014-0138-0.

Abstract

Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. Abnormalities of the skeletal system, heart, central nervous system, kidney, and gastrointestinal tract may also be observed. Intellectual disability, early motor milestones and speech delay are sometimes present; however, there are a considerable number of individuals with normal intelligence.

摘要

辛普森-戈拉比-贝梅尔综合征(SGBS)是一种罕见的过度生长综合征,临床特征为多种先天性异常、出生前后过度生长、独特的颅面特征、巨头畸形和器官肿大。还可能观察到骨骼系统、心脏、中枢神经系统、肾脏和胃肠道的异常。有时会出现智力残疾、早期运动发育里程碑延迟和语言发育迟缓;然而,有相当数量的个体智力正常。

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