title: Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126 Turin, Italy.
authors.forename: Giovanni Battista
authors.initials: GB
authors.lastname: Ferrero
authors.forename: Mariella
authors.initials: M
authors.lastname: Valenzise
authors.forename: Brunella
authors.initials: B
authors.lastname: Franco
authors.forename: Claudio
authors.initials: C
authors.lastname: Defilippi
authors.forename: Giuliana
authors.initials: G
authors.lastname: Gregato
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corsello
authors.forename: Ernesto
authors.initials: E
authors.lastname: Pepe
authors.forename: Margherita
authors.initials: M
authors.lastname: Silengo
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D001921:Brain / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009333:Neck / Q000473:pathology; D011596:Psychomotor Disorders / Q000235:genetics* / Q000503:physiopathology; D014057:Tomography, X-Ray Computed