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三胞胎中的甲状旁腺功能减退-发育迟缓-畸形(HRD)综合征

Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets.

作者信息

Al Tawil Khalil, Shataiwi Adnan, Mutair Angham, Eyaid Wafa, Saif Saif Al

机构信息

Department of Pediatrics, King Fahad National Guard Hospital, Riyadh, Saudi Arabia.

出版信息

Am J Med Genet A. 2005 Jun 1;135(2):200-1. doi: 10.1002/ajmg.a.30666.

Abstract

We report female triplets with the clinical and biochemical manifestations of hypoparatyroidism-retardation-dysmorphism (HRD) syndrome also known as Sanjad-Sakati syndrome. They were born at 35 weeks gestation after assisted pregnancy (in vitro fertilization). The parents are first degree cousins from Saudi Arabia.

摘要

我们报告了三胞胎女性,她们具有甲状旁腺功能减退-发育迟缓-畸形(HRD)综合征(也称为桑贾德-萨卡蒂综合征)的临床和生化表现。她们是在辅助妊娠(体外受精)后35周出生的。父母是来自沙特阿拉伯的一级亲属。

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