[报告2例间断型软骨发育不良]。

Archives d'ophtalmologie Pub Date : 1977-01-01
J J Aron, D Aron-Rosa, J L Llouquet
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引用次数: 0

摘要

第一例为13个月大的lewish男孩,具有典型的根茎型特征;临床表现为白内障、内斜视、眼球震颤、营养不良、小眼、挛缩、椎体、胸骨、手腕、膝盖、脚跟、肋骨周围软骨结构周围多发点状钙化;白内障手术后,视神经头比平时窄,呈白色。术后晶状体碎片的病理检查显示该白内障无任何特异性。这个孩子现在两岁半了,还活着,但情况很糟糕。第二例是一名16个月大的阿拉伯男孩,没有典型的特征,但有白内障和有限数量的骨骺点状钙化。白内障术后晶状体病理检查显示白内障无特异性,视神经正常。孩子现在3岁,发育正常,状况良好。值得注意的是,在这两个案例中都有血缘史(母亲和父亲是表兄弟)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Two cases of chondrodysplasia punctuate are reported].

The first one was a 13 months old lewish boy with typical features of the rhizometic type; clinicaly the patient demonstrated cataract, esotropia, nystagmus, malnutrition, micromelia, contracture, multiple stippled calcifications about the periphery of the cartilagenous structures of the vertebral bodies, sternum, wrists, knees, heels, ribs; and profound mental retardation, After cataract operation, the head of the optic nerve demonstrate to be narrower than usualy and white. Pathologic studies of the lens' fragments after surgery showed the cataract to be without any specific characters. The child now 2 yrs and 1/2 old is still alive but in poor condition. The second was a 16 months old Arabic boy without typical features but with a cataract and stippled calfications of a limited number of epiphysae. Pathologic studies of the lens after cataract surgery showed the cataracts to be without any specific characters, the optic nerves were normal. The child now 3 yrs old is normally developed and in good conditions. It is remarquable to note that in both cases there was an history of consanguinity (mother and father were first cousins).

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