Genetic and clinical heterogeneity in the oral-facial-digital syndromes

The association of oral, facial, and digital malformations has become known as the oral-facial-digital (OFD) syndrome. This syndrome is currently considered to be inherited as an X-linked dominant trait, manifested only in female subjects and lethal in themale. This paper documents the presence of OFD malformations in one girl and her two male siblings. It is concluded that this symptom complex represents at least two distinct genetic entities:...