An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping Bamforth syndrome, ANOTHER syndrome and methimazole embryopathy

被引：7

作者：

Al-Gazali, LI

Hamid, Z

Hertecant, J

Bakir, M

Nath, D

Kakadekar, A

机构：

[1] UAE Univ, Fac Med & Hlth Sci, Dept Paediat, Al Ain, U Arab Emirates

[2] Minist Hlth, Al Ain Hosp, Dept Paediat, Al Ain, U Arab Emirates

[3] Minist Hlth, Tawam Hosp, Dept Paediat, Al Ain, U Arab Emirates

来源：

CLINICAL DYSMORPHOLOGY | 2002年 / 11卷 / 02期

关键词：

choanal atresia; hypothelia/athelia; thyroid gland anomalies; Bamforth syndrome; ANOTHER syndrome;

D O I：

10.1097/00019605-200204000-00001

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two sibs from an inbred Arab family are described with an autosomal syndrome of choanal atresia, hypothetia/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.

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页码：79 / 85

页数：7

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