Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

A girl with oral, facial, and digital anomalies presented at birth with a large cleft palate filled by a nasopharyngeal mass and was found later to have several vertebral anomalies and mental retardation. A similar phenotype has been previously reported in a sporadic male patient [Gabrielli et al., 1994: Am J Med Genet 53:290-293], suggesting a new variant form of oral-facial-digital syndrome.