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“New syndromes,” part II: “European” syndromes

 

作者: Frits A. Beemer,   John M. Opitz,   James F. Reynolds,   Robert J. Gorlin,  

 

期刊: American Journal of Medical Genetics  （WILEY Available online 1988）
卷期: Volume 31, issue S4  

页码: 71-84

 

ISSN:0148-7299

 

年代: 1988

 

DOI:10.1002/ajmg.1320310512

 

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

 

关键词: Laband syndrome;gingival fibromatosis;de Barsy syndrome;progeroid syndrome;cutis laxa;Wiedemann‐Rautenstrauch syndrome;lacrimo‐auriculo‐dento‐digital (LADD) syndrome;ectrodactyly‐ectodermal dysplasia‐cleft lip‐palate (EEC) syndrome;ocular ptosis;cervical

 

数据来源: WILEY

 

摘要:

AbstractThis report surveys literature on four syndromes with major manifestations in the craniofacial region, i.e., Laband syndrome, de Barsy syndrome, Wiedemann‐Rautenstrauch syndrome, and LADD syndrome. In general, these four syndromes are better described in the European than in the North American literature. In addition, we report on a newly diagnosed woman having the Laband syndrome and normal intelligence. Finally, we describe a possibly “new” craniofacial syndrome in a mother and he

 

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