1例弗林斯综合征病例。
A case of Fryns syndrome.
作者信息
Young I D, Simpson K, Winter R M
出版信息
J Med Genet. 1986 Feb;23(1):82-4. doi: 10.1136/jmg.23.1.82.
Abstract
A case of Fryns syndrome is presented. Characteristic features of this lethal autosomal recessive disorder include corneal clouding, camptodactyly with hypoplastic nails, and abnormalities of the diaphragm.
摘要
本文报告1例弗林斯综合征。这种致死性常染色体隐性疾病的特征包括角膜混浊、屈曲指伴指甲发育不全以及膈肌异常。
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