一对近亲结婚父母的两个孩子患有成骨不全、视神经萎缩、视网膜病变和严重发育迟缓综合征。
A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents.
作者信息
al Gazali L I, Sabrinathan K, Nair K G
机构信息
Department of Paediatrics, FMHS, UAE University, Al Ain, United Arab Emirates.
出版信息
Clin Dysmorphol. 1994 Jan;3(1):55-62.
PMID:7515752
Abstract
We report on two sibs of consanguineous parents with osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, fits and severe psychomotor retardation.
摘要
我们报告了一对近亲父母的两个患有成骨不全、缝间骨、视神经萎缩、视网膜病变、癫痫发作和严重精神运动发育迟缓的同胞。
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