由于软骨发育不全和先天性脊柱骨骺发育不良的双重杂合性导致的致死性骨骼发育异常。
Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.
作者信息
Young I D, Ruggins N R, Somers J M, Zuccollo J M, Rutter N
机构信息
Department of Clinical Genetics, City Hospital, Nottingham.
出版信息
J Med Genet. 1992 Nov;29(11):831-3. doi: 10.1136/jmg.29.11.831.
Abstract
A male infant with lethal short limbed dwarfism is described. His father had spondyloepiphyseal dysplasia congenita and his mother had achondroplasia. It is believed that the infant inherited both of these disorders and that their combined effects resulted in early death owing primarily to severe pulmonary hypoplasia.
摘要
本文描述了一名患有致死性短肢侏儒症的男婴。他的父亲患有先天性脊柱骨骺发育不良，母亲患有软骨发育不全。据信，该婴儿遗传了这两种疾病，它们的共同作用主要由于严重的肺发育不全导致了早期死亡。
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