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A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations

 

作者: D. Urbach,   M. Hertz,   M. Shine,   R. M. Goodman,  

 

期刊: Clinical Genetics  （WILEY Available online 1986）
卷期: Volume 29, issue 1  

页码: 83-87

 

ISSN:0009-9163

 

年代: 1986

 

DOI:10.1111/j.1399-0004.1986.tb00775.x

 

出版商: Blackwell Publishing Ltd

 

关键词: Bone malformation;humerus;rhizomelia;skeletal dysplasia

 

数据来源: WILEY

 

摘要:

An Arab family is reported in which the proband and two affected sibs had bilateral rhizomelia of the humerus and other skeletal, craniofacial and cardiac abnormalities. Since all three affected sibs died during early childhood, this may be a lethal condition. We believe this constellation of findings which has not been previously described represents a new syndrome, most probably transmitted as an autosomal recessive disorder.

 

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