膈肌缺损、颅面畸形、腭裂和肢体远端畸形。——一种新的致死性综合征。
Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. - a new lethal syndrome.
作者信息
Goddeeris P, Fryns J P, van den Berghe H
出版信息
J Genet Hum. 1980 Mar;28(1):57-60.
PMID:7400786
Abstract
We recently described a new lethal malformation syndrome, characterized by typical craniofacial dysmorphism, cleft soft palate, distal limb hypoplasia and diaphragmatic defects. We here report an additional case, which tends to confirm that this syndrome represents a distinct entity among the lethal malformation syndromes.
摘要
我们最近描述了一种新的致死性畸形综合征，其特征为典型的颅面畸形、软腭裂、远端肢体发育不全和膈缺陷。我们在此报告另一病例，这倾向于证实该综合征在致死性畸形综合征中代表一种独特的实体。
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