[一例II型软骨发育不全病例]
[A case of type II achondrogenesis].
作者信息
Micheli E, Perrone C, Quarta Colosso L, Vetrugno M, Zecca G, Indirli G C, Greco F, Elia G, Ciancio S
机构信息
Divisione di Pediatria, Modulo Funzionale di Neonatologia, Copertino, Italia.
出版信息
Pediatr Med Chir. 1996 Jan-Feb;18(1):105-7.
PMID:8685014
Abstract
We describe a rare case of type II achondrogenesis (gestational age = thirty-two weeks) dead forty-five minutes after birth. This congenital skeletal dysplasia is classified among the lethal osteochondrodysplasias. Clinical features were enough for diagnosis and autopsy added nothing to our clinical knowledges.
摘要
我们描述了一例罕见的II型软骨发育不全病例（孕龄32周），患儿出生后45分钟死亡。这种先天性骨骼发育异常属于致死性骨软骨发育不良。临床特征足以做出诊断，尸检并未增加我们的临床知识。
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