Studies of a Family with the Oral-Facial-Digital Syndrome

Abstract

IN 1954 a syndrome characterized by cleft tongue and jaw, cleft lip and palate and digital malformation was described in 8 female patients by Papillon-Léage and Psaume.1 The terms "oral-facial-digital syndrome"2 and "orodigitofacial dysostosis"3 were later proposed for this condition.During a visit to a general pediatric clinic at Children's Orthopedic Hospital 3 members in different generations of a family were noted to have cleft tongue, cleft or pseudocleft palate and tongue tumors. Investigation of this family has disclosed the oral-facial-digital syndrome** in 15 females in 4 generations and 89 births. Studies are consistent with the hypothesis that this condition . . .