三名患有轻度骨硬化症的同胞。
Three sibs with mild variety of osteopetrosis.
作者信息
Shah A M, Boby K F, Karande S C, Lahiri K R, Jain M K
机构信息
Department of Paediatrics, K E M Hospital & Seth G S Medical College, Parel, Mumbai.
出版信息
J Postgrad Med. 1996 Oct-Dec;42(4):123-5.
PMID:9715315
Abstract
We report three sibs with mild autosomal recessive variety of osteopetrosis. The prominent clinical features were short stature, malocclusion of teeth, hepatosplenomegaly and a typical facial appearance. The only atypical features were microcephaly, a normal upper segment to lower segment ratio and a normal arm span.
摘要
我们报告了三例患有轻度常染色体隐性骨硬化症的同胞。突出的临床特征为身材矮小、牙齿咬合不正、肝脾肿大以及典型的面部外观。唯一不典型的特征是小头畸形、上半身与下半身比例正常以及臂展正常。
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