一种新的骨骼发育不良综合征，伴有侏儒症、颅面畸形和独特的影像学表现。
A new skeletal dysplasia syndrome with dwarfism, craniofacial anomalies, and unique radiographic findings.
作者信息
Jones K L, Jones K L, Miller K
出版信息
Am J Med Genet. 1986 Mar;23(3):751-7. doi: 10.1002/ajmg.1320230303.
PMID:2420178
Abstract
We report on a boy from a consanguinous marriage who has a unique skeletal dysplasia, marked dwarfism, mild developmental delay, eye abnormalities, and cranofacial and skeletal changes that have not been described previously.
摘要
我们报告了一名来自近亲婚姻家庭的男孩，他患有一种独特的骨骼发育不良症，伴有明显的侏儒症、轻度发育迟缓、眼部异常，以及此前未被描述过的颅面和骨骼变化。
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