GELEOPHYSIC DYSPLASIA
GELEOPHYSIC DYSPLASIA
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DOI：
10.1002/ajmg.1320190310
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发表时间：
1984-01-01
期刊：
影响因子：
--
通讯作者：
OPITZ, JM
中科院分区：
文献类型：
--
作者：
SPRANGER, J;GILBERT, EF;OPITZ, JM
根据文献中的3例受累同胞和1例孤立病例，将胶状发育不良定义为具有特殊、良好面部外观的肢端面部发育不良，由于管状骨短小、丰满、身材矮小和进行性心脏瓣膜病导致的手和脚短小。这似乎是一种糖蛋白代谢遗传性疾病，伴有常染色体隐性传播。
On the basis of three affected sibs and one isolated case from the literature geleophysic dysplasia is defined as an acrofacial dysplasia with a peculiar, good‐natured facial appearance, short hands and feet due to short, plump tubular bones, small stature, and progressive valvular cardiac disease. It seems to be a hereditary disorder of glycoprotein metabolism with autosomal recessive transmission.