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Isolated mesomelic shortening of the forearm in father and daughter: a new entity in the group of mesomelic dysplasias

 

作者: J. P. Fryns,   G. Hofkens,   G. Fabry,   H. Berghe,  

 

期刊: Clinical Genetics  （WILEY Available online 1988）
卷期: Volume 33, issue 1  

页码: 57-59

 

ISSN:0009-9163

 

年代: 1988

 

DOI:10.1111/j.1399-0004.1988.tb04266.x

 

出版商: Blackwell Publishing Ltd

 

关键词: autosomal dominant inheritance;limb malformation;mesomelic dysplasia;skeletal dysplasia

 

数据来源: WILEY

 

摘要:

In this report we describe the occurrence of severe mesomelic shortening of the forearms due to hypoplasia of the ulnae with severe radial bowing. In contrast to the mesomelic dysplasias, i.e. Langer type of mesomelic dwarfism, this apparently autosomal dominantly inherited skeletal anomaly occurred as an isolated anomaly without concomitant involvement of shanks or other parts of the skeleton, and did not influence final adult height.

 

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