The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome
The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome
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成骨不全症的眼部形式：一种新的常染色体隐性遗传综合征
作者：
P. Beighton;I. Winship;D. Behari
我们调查了一个南非家庭的印度股票，其中4个兄弟和2个堂兄弟有一个严重的形式的成骨关节炎（OI）连同失明，由于增生的玻璃体，角膜混浊和继发性青光眼。据我们所知，以前没有报道过这种类型的OI和眼部问题的综合征相关性，我们认为这种情况是一个新认识的实体。该家系符合常染色体隐性遗传。
We have investigated a South African family of Indian stock in which 4 brothers and 2 cousins had a severe form of osteogenesis imperfecta (OI) together with blindness due to hyperplasia of the vitreous, corneal opacity and secondary glaucoma. To the best of our knowledge the syndromic association of OI and ocular problems of this type has not previously been reported, and we believe that this condition is a newly recognised entity. The pedigree is consistent with autosomal recessive inheritance.