Oral‐facial‐digital syndrome with fibular aplasia: a new variant

Figuera LE, Rivas F, Cantú JM. Oral‐facial‐digital syndrome with fibular aplasia: a new variant. Clin Genet 1993: 44: 190–192. © Munksgaard, 1993 The oral‐facial‐digital (OFD) syndromes constitute a heterogeneous group of entities usually associated with certain features that permit a specific diagnosis. This report refers to a 10‐month‐old girl with cleft palate, mesomelic limb shortening, oligopolydactyly, and fibular aplasia. Since this combination has not been described previously, it is proposed as a distinct type of oral‐facial‐digital syndrome, and we suggest mutations of homeotic genes to explain some abnormalities present in the OFD syndromes.