两例同胞患色素性视网膜炎、智力发育迟缓、显著身材矮小和短指畸形。
Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs.
作者信息
Lorda-Sanchez I, Trujillo M J, Gimenez A, Garcia-Sandoval B, Franco A, Sanz R, Rodriguez de Alba M, Ramos C, Ayuso C
机构信息
Service of Genetics, Fundación Jimenez-Diaz, Madrid, Spain.
出版信息
Ophthalmic Genet. 1999 Jun;20(2):127-31. doi: 10.1076/opge.20.2.127.2289.
PMID:10420199
Abstract
We present two siblings with retinitis pigmentosa, mental retardation, markedly short stature, and brachydactyly. This association of clinical findings appears to be distinct from previously described syndromes and seems to represent the pleiotropic effects of a single autosomal recessive gene.
摘要
我们报告了两名患有色素性视网膜炎、智力发育迟缓、身材明显矮小和短指畸形的同胞。这些临床发现的组合似乎与先前描述的综合征不同，似乎代表了单个常染色体隐性基因的多效性效应。
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