Aron J J, Aron-Rosa D, Llouquet J L
Arch Ophtalmol (Paris). 1977;37(3):197-206.
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).
第一个病例是一名13个月大的犹太男孩，具有根茎型的典型特征；临床上，该患者表现出白内障、内斜视、眼球震颤、营养不良、短肢畸形、挛缩，椎体、胸骨、手腕、膝盖、足跟、肋骨的软骨结构周围有多处点状钙化；以及严重智力发育迟缓。白内障手术后，视神经头部比通常情况更窄且呈白色。手术后晶状体碎片的病理研究表明，白内障没有任何特异性特征。这个现在2岁半的孩子仍然活着，但状况不佳。第二个病例是一名16个月大的阿拉伯男孩，没有典型特征，但有白内障和少数骨骺的点状钙化。白内障手术后晶状体的病理研究表明，白内障没有任何特异性特征，视神经正常。这个现在3岁的孩子发育正常，状况良好。值得注意的是，两个病例都有近亲结婚史（父母是表亲）。
