Oral-facial-digital syndrome with fibular aplasia: a new variant.
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.
Figuera
L E
LE
División de Genética, CMNO-IMSS, Guadalajara, Jalisco, Mexico.
Rivas
F
F
Cantú
J M
JM
D005260:Female; D006801:Humans; D007223:Infant; D009958:Orofaciodigital Syndromes / Q000473:pathology*; D010641:Phenotype