title: Oral-facial-digital syndrome gabrielli type: second report.
abstract: We describe a second sporadic case, a girl, with the features of Oral-Facial-Digital, type Gabrielli. We comment on several aspects of this condition and confirm this entity as a unique syndrome, different from the other OFDS. To date, the diagnosis is based only on clinical and radiographic findings.
authors.affiliation: Department of Medical Genetics, Garrahan Pediatrics Hospital, Buenos Aires, Argentina.
authors.forename: Maria Gabriela
authors.initials: MG
authors.lastname: Obregón
authors.forename: Cristina Zulema
authors.initials: CZ
authors.lastname: Barreiro
mesh_terms: D002675:Child, Preschool; D005260:Female; D034381:Hearing Loss / Q000150:complications; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D009958:Orofaciodigital Syndromes / Q000150:complications / Q000000981:diagnostic imaging; D011859:Radiography