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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