Schultz C, Langer L O, Laxova R, Pauli R M
Department of Medical Genetics, University of Wisconsin-Madison, 53705, USA.
Am J Med Genet. 1999 Mar 5;83(1):28-42. doi: 10.1002/(sici)1096-8628(19990305)83:1<28::aid-ajmg7>3.0.co;2-g.
We describe two additional instances of atelosteogenesis, type III, in a woman and her son. Clinical and radiographic information concerning these individuals allows further definition of this rare skeletal dysplasia. This is the first documentation of survival to adulthood of an individual with this disorder, of prenatal diagnostic assessment of an affected individual, and of vertical transmission suggestive of autosomal dominant inheritance. The clinical and radiologic phenotype of atelosteogenesis, type III overlaps with that of another skeletal dysplasia, autosomal dominant Larsen syndrome; these most likely represent allelic conditions.
我们描述了一名女性及其儿子患III型骨发育不全的另外两个病例。有关这些个体的临床和影像学信息有助于进一步明确这种罕见的骨骼发育异常。这是首次记录患有这种疾病的个体存活至成年、对患病个体进行产前诊断评估以及提示常染色体显性遗传的垂直传播。III型骨发育不全的临床和放射学表型与另一种骨骼发育异常——常染色体显性拉森综合征的表型重叠；它们很可能代表等位基因情况。
