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Oral–facial–digital syndromes: Review and diagnostic guidelines
Author(s) -
Gurrieri Fiorella,
Franco Brunella,
Toriello Helga,
Neri Giovanni
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32032
Subject(s) - medicine , computer science , dermatology , psychology
The oral–facial–digital syndromes (OFDS) result from the pleiotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits. Other organ systems can be involved, defining specific types of OFDS. To date, 13 types have been distinguished based on characteristic clinical manifestations. An updated list of these types is provided and recent molecular data are discussed. © 2007 Wiley‐Liss, Inc.