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Acromesomelic dwarfism: Manifestations in childhood

 

作者: Leonard O. Langer,   Rodney K. Beals,   Irene L. Solomon,   Penny A. Bard,   Leslie A. Bard,   Edward M. Rissman,   John G. Rogers,   John P. Dorst,   Judith G. Hall,   Robert S. Sparkes,   Edmund A. Franken,   J. M. Opitz,  

 

期刊: American Journal of Medical Genetics  （WILEY Available online 1977）
卷期: Volume 1, issue 1  

页码: 87-100

 

ISSN:0148-7299

 

年代: 1977

 

DOI:10.1002/ajmg.1320010110

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: acromesomelic dwarfism;skeletal dysplasia;shortness of stature;spondylometaphyseal dysplasia

 

数据来源: WILEY

 

摘要:

AbstractAcromesomelic dwarfism is a distinct condition characterized by short stature of the short limb type, with the hands and feet showing the most obvious deviations from normal. The forearm bones are usually disproportionately shorter than the other long tubular bones of the limbs. The intelligence is normal. Available data suggest autosomal recessive transmission. Characteristic clinical and radiographic features permit establishment of a confident diagnosis in the first year of life.

 

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