Oral, facial, digital, vertebral anomalies with psychomotor delay: A mild form of OFD type Gabrielli?

Giovanni Battista Ferrero, Mariella Valenzise, Brunella Franco, Claudio Defilippi, Giuliana Gregato, Giovanni Corsello, Ernesto Pepe, Margherita Silengo

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)291-294
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume113
Issue number3
DOIs
Publication statusPublished - Dec 1 2002

Keywords

  • Cleft palate
  • Hairy polyp
  • Occipital anomalies
  • OFD syndrome
  • Vertebral anomalies

ASJC Scopus subject areas

  • Genetics(clinical)

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  • Cite this

    Ferrero, G. B., Valenzise, M., Franco, B., Defilippi, C., Gregato, G., Corsello, G., Pepe, E., & Silengo, M. (2002). Oral, facial, digital, vertebral anomalies with psychomotor delay: A mild form of OFD type Gabrielli? American Journal of Medical Genetics, 113(3), 291-294. https://doi.org/10.1002/ajmg.10815