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.
Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?
FERRERO, Giovanni Battista;CIRILLO, Margherita
2002-01-01
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.File in questo prodotto:
Non ci sono file associati a questo prodotto.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.