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?
VALENZISE, Mariella;
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:
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