骨软骨发育不全性侏儒症
Osteoglophonic dwarfism.
作者信息
Beighton P, Cremin B J, Kozlowski K
出版信息
Pediatr Radiol. 1980 Sep;10(1):46-50. doi: 10.1007/BF01644343.
PMID:7422392
Abstract
A ten year old South African girl of mixed ancestry presented with gross facial abnormalities and dwarfism consequent upon a bizarre skeletal dysplasia. The main radiographic features were craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyl. Intelligence was normal and there were no systemic ramifications. The term "osteoglophonic dwarfism" is a succinct and apt designation for this remarkable disorder.
摘要
一名十岁的南非混血女孩因一种罕见的骨骼发育异常，出现了严重的面部畸形和侏儒症。主要的影像学特征为颅骨狭窄、纤维性发育异常、干骺端透亮区和椎体扁平。智力正常，且无全身并发症。“骨舌样侏儒症”这一术语是对这种罕见病症简洁而恰当的命名。
Zotero 插件