一名患有角膜硬化、四肢短小、身材矮小且面容独特的儿童。
A child with sclerocornea, short limbs, short stature, and distinct facial appearance.
作者信息
Thompson E M, Winter R M
机构信息
Department of Paediatric Genetics, Hospitals for Sick Children, London, U.K.
出版信息
Am J Med Genet. 1988 Jul;30(3):719-24. doi: 10.1002/ajmg.1320300304.
PMID:3055984
Abstract
We describe a boy with sclerocornea, short limbs, short stature and a distinct facial appearance. The resemblance to other reports of affected sibs suggests that this is a newly recognised, autosomal recessive syndrome.
摘要
我们描述了一名患有角膜硬化、四肢短小、身材矮小且面部特征独特的男孩。与其他有关患病同胞的报告相似，提示这是一种新发现的常染色体隐性综合征。
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