伴有尺骨远端缺如的独特骨骼发育异常。
Unique skeletal dysplasia with absence of the distal ulnae.
作者信息
Goldblatt J, Behari D
机构信息
Department of Human Genetics, University of Cape Town Medical School, South Africa.
出版信息
Am J Med Genet. 1987 Nov;28(3):625-30. doi: 10.1002/ajmg.1320280310.
PMID:3425631
Abstract
We report on an Indian woman with a severe shortness of stature, absence of the distal ulnae, and a predominantly spondylometaphyseal skeletal dysplasia. The clinicoradiographic changes in this patient appear to represent a unique skeletal disorder.
摘要
我们报告了一名身材严重矮小、尺骨远端缺如且以脊椎干骺端骨发育不良为主的印度女性。该患者的临床影像学改变似乎代表了一种独特的骨骼疾病。
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