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Heterogeneity and variability in the oral‐facial‐digital syndromes

 

作者: Helga V. Toriello,   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: 149-159

 

ISSN:0148-7299

 

年代: 1988

 

DOI:10.1002/ajmg.1320310515

 

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

 

关键词: Mohr syndrome;Varadi syndrome;Thurston syndrome;Whelan syndrome;multiple congenital anomalies

 

数据来源: WILEY

 

摘要:

AbstractThe oral‐facial‐digital syndromes are a heterogeneous group of conditions sharing oral, facial, and digital anomalies. Based on more or less subtle clinical differences, at least seven causally different entities can be identified in this group. These include (1) oral‐facial‐digital syndrome (OFDS) I; (2) Mohr syndrome (OFDS II); (3) OFDS III; (4) OFDS with tibial anomalies (OFDS IV); (5) Thurston syndrome; (6) Varadi syndrome; and (7) Whelan syndrome. However, since differentiation between these entities is based on clinical findings, this classification should be viewed as tentative until more definitive methods are av

 

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