一种具有点状软骨发育不良和成骨不全特征的致死性骨骼发育不良：阿斯利 - 肯德尔发育不良的一个实例。对一种罕见遗传疾病的进一步描述。
A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder.
作者信息
Elçioglu N, Hall C M
机构信息
Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, UK.
出版信息
J Med Genet. 1998 Jun;35(6):505-7. doi: 10.1136/jmg.35.6.505.
Abstract
An unusual osteochondrodysplasia presenting with lethal neonatal short limbed dwarfism, defective ossification, and punctate calcification within cartilage is presented. The features resemble four cases previously described with Astley-Kendall dysplasia.
摘要
本文报告了一种罕见的骨软骨发育不良，表现为致死性新生儿短肢侏儒症、骨化缺陷以及软骨内点状钙化。其特征与先前报道的4例阿斯利-肯德尔发育异常病例相似。
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