Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome.

M Warburg, O Sjö, H C Fledelius, S A Pedersen
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引用次数: 105

Abstract

Three affected children from an inbred family had microcornea, microcephaly, congenital cataract, severe mental retardation, retinal dystrophy, optic nerve atrophy, hypothalamic hypogenitalism, and agenesis of the corpus callosum. The disorder is presumably autosomal recessive; no identical syndrome has been described, but we consider syndromes with similar features.

常染色体隐性小头畸形,小角膜,先天性白内障,智力低下,视神经萎缩和性器官减退。微综合症。
来自近亲家庭的3例患儿有小角膜、小头畸形、先天性白内障、严重智力低下、视网膜营养不良、视神经萎缩、下丘脑性器官减退和胼胝体发育不全。这种疾病可能是常染色体隐性遗传;没有完全相同的综合征被描述,但我们考虑具有相似特征的综合征。
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