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A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly

 

作者: Alain Verloes,   Paul Jamblin,   Lucien Koulischer,   Jean‐Pierre Bourguignon,  

 

期刊: Clinical Genetics  （WILEY Available online 1996）
卷期: Volume 49, issue 1  

页码: 2-5

 

ISSN:0009-9163

 

年代: 1996

 

DOI:10.1111/j.1399-0004.1996.tb04315.x

 

出版商: Blackwell Publishing Ltd

 

关键词: amelogenesis imperfecta;brachyolmia;platyspondyly

 

数据来源: WILEY

 

摘要:

We report two patients, born of consanguineous parents, affected by a disorder resulting in mild growth retardation. Hallmarks are amelogenesis imperfecta (absence of the enamel cap) associated with brachyolmia‐like anomalies: platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular‐shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Inheritance appears to be autosomal recess

 

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