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Cerebroarthrodigital syndrome: A newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia

 

作者: J. W. Spranger,   A. Schinzel,   T. Myers,   J. Ryan,   A. Giedion,   J. M. Opitz,   Judith G. Hall,  

 

期刊: American Journal of Medical Genetics  （WILEY Available online 1980）
卷期: Volume 5, issue 1  

页码: 13-24

 

ISSN:0148-7299

 

年代: 1980

 

DOI:10.1002/ajmg.1320050104

 

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

 

关键词: arthromyodysplasia;arthrogryposis;sacral agenesis;digital hypoplasia;hydrocephaly;microcephaly;formal genesis syndrome;ergotamine;diazoxide;akebane virus;aino virus

 

数据来源: WILEY

 

摘要:

AbstractWe describe three patients with a complex syndrome of apparent arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digits. Cause is unknown, but an environmental cause is suspected on the basis of ergotamine exposure in one case and diazoxide intake in another, together with suggestive similarities to anomalies seen in animals treated with these drugs and to calves with the Australian hydranencephaly/arthrogryposis syndrome caused by Akebane or Aino virus. Pathogenetically the primary defect may be a neural tube‐neural crest dysplasia with multiple secondary and tertiary manifestations and deformitie

 

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