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Oral-facial-digital syndrome with fibular aplasia: a new variant
L E Figuera1, F Rivas, J M Cantú
1División de Genética, CMNO-IMSS, Guadalajara, Jalisco, Mexico.
Clinical Genetics
|October 1, 1993
Abstract:
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.