点状软骨发育异常：异质性的进一步证据。
Chondrodysplasia punctata: further evidence of heterogeneity.
作者信息
Norman A M, Jivani S, Kingston H M
机构信息
Regional Genetic Service, St Mary's Hospital, Manchester, UK.
出版信息
Clin Dysmorphol. 1992 Jul;1(3):161-4.
PMID:1342864
Abstract
We describe a patient with chondrodysplasia punctata. He had stippled epiphyses and coronal clefting of the vertebral bodies. No peroxisomal abnormalities were detected. His facial appearance and X-rays were suggestive of the Sheffield type of chondrodysplasia punctata. This type of chondrodysplasia punctata appears to be a heterogeneous group.
摘要
我们描述了一名点状软骨发育不良患者。他有骨骺斑点和椎体冠状裂。未检测到过氧化物酶体异常。他的面部外观和X线表现提示为谢菲尔德型点状软骨发育不良。这种类型的点状软骨发育不良似乎是一个异质性群体。
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