[一例伴有三叶形头盖骨的致死性骨发育不全病例描述]
[Description of a case of thanatophoric dysplasia with cloverleaf skull].
作者信息
Ronconi G F, Pesenti P, Mercurella A, Sassolino S
出版信息
Pediatr Med Chir. 1986 May-Jun;8(3):423-5.
PMID:3786207
Abstract
This report presents the clinical, radiographic, and autopsy findings in a newborn infant with thanatophoric dysplasia and cloverleaf skull who died soon after birth. The possible genetic mechanisms of transmission of both malformations are discussed.
摘要
本报告介绍了一名患有致死性骨发育不全和三叶草颅骨畸形的新生儿出生后不久死亡的临床、影像学及尸检结果。文中讨论了这两种畸形可能的遗传传递机制。
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