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RESEARCH PRODUCT
Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?
Ernesto PepeGiovanni CorselloClaudio DefilippiMargherita SilengoMariella ValenziseGiovanni Battista FerreroGiuliana GregatoBrunella Francosubject
Oral facial digitalVertebral anomaliesOFD syndromemedicineHumansAbnormalities MultipleMild formGenetics (clinical)cleft palatebusiness.industryhairy polypInfant NewbornBrainInfantAnatomyOFD syndrome; cleft palate; hairy polyp; vertebral anomalies; occipital anomaliesNew variantvertebral anomaliesmedicine.diseaseoccipital anomaliesVertebraDevelopmental disorderstomatognathic diseasesmedicine.anatomical_structureEl NiñoFemalePsychomotor DisordersbusinessTomography X-Ray ComputedPsychomotor delayNeckdescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2002-01-01 | American journal of medical genetics |