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.
Ferrero
Giovanni Battista
GB
Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126 Turin, Italy.
Valenzise
Mariella
M
Franco
Brunella
B
Defilippi
Claudio
C
Gregato
Giuliana
G
Corsello
Giovanni
G
Pepe
Ernesto
E
Silengo
Margherita
M
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