The oral-facial-digital syndrome: case report of a mother and daughter

A case report of a daughter and mother with the oral-facial digital syndrome, type I, is presented. The features were variable between the two cases. The daughter had a previously unreported feature, ridging of the metopic suture. Hand-wrist radiographs of both the patient and mother demonstrated a normal trabeculation pattern, contradicting the suggestion of Anneren et al (1984) that irregular mineralization of the hands is pathognomonic for the OFD I syndrome.