ORAL-FACIAL-DIGITAL SYNDROME WITH FIBULAR APLASIA - A NEW VARIANT

The oral-facial-digital (OFD) syndromes constitute a heterogeneous gro up of entities usually associated with certain features that permit a specific diagnosis. This report refers to a 10-month-old girl with cle ft palate, mesomelic limb shortening, oligopolydactyly, and fibular ap lasia. Since this combination has not been described previously, it is proposed as a distinct type of oral-facial-digital syndrome, and we s uggest mutations of homeotic genes to explain some abnormalities prese nt in the OFD syndromes.