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