一种常染色体隐性综合征，表现为后鼻孔闭锁、皮肤发育不全/无皮肤以及甲状腺异常，与班福思综合征、另一种综合征和甲巯咪唑胚胎病重叠。
An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping bamforth syndrome, ANOTHER syndrome and methimazole embryopathy.
作者信息
Al-Gazali L I, Hamid Z, Hertecant J, Bakir M, Nath D, Kakadekar A
机构信息
Department of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.
出版信息
Clin Dysmorphol. 2002 Apr;11(2):79-85. doi: 10.1097/00019605-200204000-00001.
Abstract
Two sibs from an inbred Arab family are described with an autosomal syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping Bamforth syndrome, ANOTHER syndrome and methimazole embryopathy. In one case the syndrome described was lethal. Cases with similar features are reviewed and genetic mutations discussed.
摘要
本文描述了一个近亲结婚的阿拉伯家庭中的两名同胞，他们患有常染色体综合征，表现为后鼻孔闭锁、皮肤发育不全/无皮肤以及甲状腺异常，与班福思综合征、另一种综合征和甲巯咪唑胚胎病重叠。其中一例所描述的综合征是致命的。本文对具有相似特征的病例进行了综述，并讨论了基因突变情况。
Zotero 插件