6 PATIENTS WITH ORAL-FACIAL-DIGITAL SYNDROME-IV - THE CASE FOR HETEROGENEITY

The oral-facial-digital syndromes (OFDS) have in common minor facial a nd oral anomalies (including tongue lobulation and/or hamartomas, acce ssory frenula, and alveolar anomalies) and variable digital defects su ch as polydactyly. The classification based on the presence of additio nal findings [Toriello, 1988, 1993] is not perfect, as many reported e xamples of a particular OFDS have some other condition, Here we descri be six children, all diagnosed as having OFDS IV (OFDS with tibial def ects), whose manifestations illustrate the apparent genetic heterogene ity. (C) 1997 Wiley-Liss, Inc.