Cole W G, Chow C W, Rogers J G, Bateman J F
Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
J Med Genet. 1990 Apr;27(4):228-35. doi: 10.1136/jmg.27.4.228.
The features of three babies with lethal perinatal osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen were studied. The babies were heterozygous for this substitution at residue 391 in case 1 (0I24), 667 in case 2 (0I51), and 976 in case 3 (0I30). They were all small, term babies who died soon after birth. The ribs were broad and continuously beaded in 0I24, discontinuously beaded in 0I51, and slender with few fractures in 0I30. The overall radiographical classifications were type IIA in 0I24, IIA/IIB in 0I51, and IIB in 0I30. Histological examination confirmed that the long bones were misshapen and porotic. The calcified cartilage trabeculae were covered with an abnormally thin layer of osteoid and the bone trabeculae were thin and basophilic. There was no evidence of lamellar bone or Haversian systems. The osteoblasts remained relatively large and closely spaced. These babies shared many phenotypic features, but differences in the radiographical appearance of the ribs and long bones suggested that there was a gradient of bone modelling capacity from the slender and overmodelled bones in 0I30 to the absence of modelling in 0I24.
对三名因I型前胶原α1（I）链中甘氨酸被精氨酸替代而导致致死性围产期成骨不全的婴儿的特征进行了研究。在病例1（OI24）中，该替代发生在第391位残基，病例2（OI51）中发生在第667位残基，病例3（OI30）中发生在第976位残基，这三名婴儿均为该替代的杂合子。他们都是足月出生的小婴儿，出生后不久即死亡。OI24的肋骨宽阔且连续串珠状，OI51的肋骨间断串珠状，OI30的肋骨细长且骨折较少。总体X线分类在OI24为IIA型，OI51为IIA/IIB型，OI30为IIB型。组织学检查证实长骨畸形且多孔。钙化软骨小梁覆盖着异常薄的类骨质层，骨小梁薄且呈嗜碱性。没有板层骨或哈弗斯系统的证据。成骨细胞仍然相对较大且间距紧密。这些婴儿有许多共同的表型特征，但肋骨和长骨X线表现的差异表明，从OI30中细长且过度塑形的骨骼到OI24中无塑形现象，存在骨塑形能力的梯度变化。
