Oro-facio-digital syndrome - A novel variant?

Oralfacial-digital (OFD) syndromes are a heterogeneous group of inherited s yndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachy dactyly, polydactyly, syndactyly). Due to more or less subtle clinical feat ures, at least seven causally different entities can be identified: 1) OFDS I; 2) OFDS II (Mohr syndrome); 3) OFDS III; 4) OFDS with tibial anomalies (OFDS IV); 5) OFDS V (Thurston syndrome); 6) OFDS VI (Varadi syndrome); and 7) OFDS VII (Whelan syndrome). The neuro-psychiatric clinical observations and MRI findings of a 40 year old woman with a OFD syndrome are described. The observed findings (leukoaraiosis, epilepsy, major depression) in combi nation with a proven OFD syndrome possibly reflect a new type of OFD syndro me.