首页> 外文期刊>Ceylon Medical Journal >Arthrogryposis multiplex congenita distal type II associated with facial abnormality, renal abnormality, Polydactyly and Hirschprung's disease
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Arthrogryposis multiplex congenita distal type II associated with facial abnormality, renal abnormality, Polydactyly and Hirschprung's disease

机译:多发性先天性多发性先天性II型远端畸形,与面部异常,肾脏异常,多发性畸形和巨结肠综合征相关

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摘要

A case of arthrogryposis multiplex congenita distal type II associated with facial abnormality, renal abnormality, postaxial poydactyly and Hirschprung's disease is described. It appears to be a new form of an autosomal recessive disorder.DOI: http://dx.doi.org/10.4038/cmj.v46i4.6470 Ceylon Medical Journal 2001; 46(4): 156-157
机译:描述了一种与面部异常,肾脏异常,后轴多形性畸形和Hirschprung's病相关的多发性先天性多发性Ⅱ型关节炎。它似乎是常染色体隐性遗传疾病的一种新形式。DOI:http://dx.doi.org/10.4038/cmj.v46i4.6470 Ceylon Medical Journal 2001; 46(4):156-157

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