GENETIC-HETEROGENEITY IN OSTEOGENESIS IMPERFECTA
GENETIC-HETEROGENEITY IN OSTEOGENESIS IMPERFECTA
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DOI：
10.1136/jmg.16.2.101
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发表时间：
1979-01-01
影响因子：
4
通讯作者：
DANKS, DM
中科院分区：
文献类型：
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作者：
SILLENCE, DO;SENN, A;DANKS, DM
在澳大利亚维多利亚进行的一项关于成骨不全（OI）的流行病学和遗传学研究证实，目前至少有4种不同的综合征被称为OI。最大的一组患者表现为常染色体显性遗传的骨质疏松症，导致骨折和明显的蓝色巩膜。很大一部分成年人有老年前期耳聋或有老年前期传导性听力损失的家族史。第二组，包括大多数新生儿骨折的新生儿，都在出生前或出生后不久死亡。在骨骼X光片中，这些人具有特征性的宽而皱的股骨和串珠状肋骨。常染色体隐性遗传可能是一些，如果不是所有的情况下，这些案件。第三组，其中2/3在出生时有骨折，表现出严重的四肢和脊柱进行性畸形。巩膜蓝变密度低于第1组患者，接近正常儿童和成人。蓝色似乎随着年龄的增长而减少。本组病例均为散发病例。该研究没有解决遗传模型，但很可能该组是异质性的，显性和隐性基因型都对该综合征负责。第4组患者表现为显性遗传性骨质疏松症导致骨折，长骨畸形多样，但巩膜正常。
An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least 4 distinct syndromes at present called OI. The largest group of patients showed autosomal dominant inheritance of osteoporosis leading to fractures and distinctly blue sclerae. A large proportion of adults had presenile deafness or a family history of presenile conductive hearing loss. A 2nd group, who comprised the majority of newborns with neonatal fractures, all died before or soon after birth. These had characteristic broad, crumpled femora and beaded ribs in skeletal X-rays. Autosomal recessive inheritance was likely for some, if not all, of these cases. A 3rd group, of whom 2/3 had fractures at birth, showed severe progressive deformity of limbs and spine. The density of scleral blueness appeared less than that seen in the 1st group of patients and approximated that seen in normal children and adults. The blueness appeared to decrease with age. All patients in this group were sporadic cases. The model of inheritance was not resolved by the study, but it is likely that the group is heterogeneous with both dominant and recessive genotypes responsible for the syndrome. The 4th group of patients showed dominant inheritance of osteoporosis leading to fractures, with variable deformity of long bones, but normal sclerae.