腭裂、双侧后鼻孔闭锁、卷发和先天性甲状腺功能减退的综合征关联。
Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism.
作者信息
Buntincx I M, Van Overmeire B, Desager K, Van Hauwaert J
机构信息
Department of Medical Genetics, University of Antwerp, Belgium.
出版信息
J Med Genet. 1993 May;30(5):427-8. doi: 10.1136/jmg.30.5.427.
Abstract
We describe a patient with the unusual association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. This association has been reported before in two brothers and may represent a new syndrome.
摘要
我们描述了一名患有腭裂、双侧后鼻孔闭锁、卷发和先天性甲状腺功能减退症罕见组合的患者。这种组合之前曾在两兄弟中报道过，可能代表一种新的综合征。
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本文引用的文献
1
Congenital posterior choanal atresia.
Clin Otolaryngol Allied Sci. 1983 Aug;8(4):251-5. doi: 10.1111/j.1365-2273.1983.tb01437.x.
2
Dermoid cysts, hypothyroidism, cleft palate, and hypodontia.
J Clin Dysmorphol. 1983 Winter;1(4):24-7.
3
The natural history of 'dystrophic' pili torti.
Br J Dermatol. 1989 Feb;120(2):323-5.
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