具有常染色体显性遗传的裂手、梗阻性泌尿异常和脊柱裂或膈缺陷综合征。
Split hand, obstructive urinary anomalies and spina bifida or diaphragmatic defect syndrome with autosomal dominant inheritance.
作者信息
Czeizel A, Losonci A
机构信息
Department of Human Genetics and Teratology, WHO Collaborating Centre for the Community Control of Hereditary Diseases, Budapest, Hungary.
出版信息
Hum Genet. 1987 Oct;77(2):203-4. doi: 10.1007/BF00272395.
PMID:3308683
Abstract
Three members of a nuclear family were affected by split hands and feet or syndactyly, obstructive urinary anomalies and spina bifida or diaphragmatic defect.
摘要
一个核心家庭的三名成员患有裂手裂足或并指（趾）畸形、梗阻性泌尿异常以及脊柱裂或膈疝。
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