唇腭裂及其他面部、眼部、心脏和肠道异常的同胞中出现的一种明显的新的MCA/MR综合征。
Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies.
作者信息
Kapur S, Toriello H V
机构信息
Department of Pediatrics and Human Development, Michigan State University, East Lansing 48824-1317.
出版信息
Am J Med Genet. 1991 Dec 15;41(4):423-5. doi: 10.1002/ajmg.1320410407.
PMID:1776630
Abstract
We report on a sister and brother with severe mental retardation, bulbous tip of the nose, long columella, cleft lip and palate, heart and intestinal anomalies, and growth retardation. This appears to be a previously unreported, autosomal recessive condition, given high resolution prometaphase chromosomes are normal.
摘要
我们报告了一对患有严重智力迟钝、鼻尖球状、鼻小柱长、唇腭裂、心脏和肠道异常以及生长发育迟缓的姐弟。鉴于高分辨率早中期染色体正常，这似乎是一种以前未报道过的常染色体隐性疾病。
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