一种与原发性甲状腺功能减退相关的新型弗林斯“无眼畸形综合征”。
A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism.
作者信息
Akalin I, Senses D A, Ilgin-Ruhi H, Misirlioğlu E, Yalçiner M, Cetinkaya E, Fryns J P, Tükün A
机构信息
Ankara University School of Medicine, Department of Medical Genetics, 06100, Sihhiye, Ankara, Turkey.
出版信息
Genet Couns. 2005;16(2):145-8.
PMID:16080293
Abstract
A novel Fryns "anophthalmla-plus" syndrome associated with primary hypothyroidism: Here, we report a newborn male with "anophthalmia-plus" syndrome and primary congenital hypothyroidism. To our knowledge this is the first case of 'anophthalmia-plus' syndrome associated with congenital hypothyroidism in the literature up to date.
摘要
一种与原发性甲状腺功能减退相关的新型弗林斯“无眼畸形伴其他异常”综合征：在此，我们报告一名患有“无眼畸形伴其他异常”综合征和原发性先天性甲状腺功能减退的新生儿男性。据我们所知，这是迄今为止文献中首例与先天性甲状腺功能减退相关的“无眼畸形伴其他异常”综合征病例。
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