A PREVIOUSLY UNDESCRIBED AUTOSOMAL RECESSIVE MULTIPLE CONGENITAL-ANOMALIES MENTAL-RETARDATION (MCA MR) SYNDROME WITH GROWTH FAILURE, LIP PALATE CLEFT(S), AND UROGENITAL ANOMALIES
A PREVIOUSLY UNDESCRIBED AUTOSOMAL RECESSIVE MULTIPLE CONGENITAL-ANOMALIES MENTAL-RETARDATION (MCA MR) SYNDROME WITH GROWTH FAILURE, LIP PALATE CLEFT(S), AND UROGENITAL ANOMALIES
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DOI：
10.1002/ajmg.1320160405
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发表时间：
1983-01-01
期刊：
影响因子：
--
通讯作者：
VANLIEFERINGHEN, P
中科院分区：
文献类型：
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作者：
MALPUECH, G;DEMEOCQ, F;VANLIEFERINGHEN, P
在同一个家庭的四个孩子中，我们观察到智力迟钝、侏儒症、距离过远、面部裂开和泌尿生殖系统异常的关联。临床和实验室数据表明，这是一种以前未描述的遗传综合征，即一种多效性常染色体隐性遗传性状。
In four children from the same family, we have observed an association of mental retardation, dwarfism, hypertelorism, facial clefting and urogenital abnormalities. Clinical and laboratory data suggest that it is a previously undescribed genetic syndrome, ie, a pleiotropic autosomal recessive trait.