Oral-facial-digital syndrome gabrielli type: second report.
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.
Obregón
Maria Gabriela
MG
Department of Medical Genetics, Garrahan Pediatrics Hospital, Buenos Aires, Argentina.
Barreiro
Cristina Zulema
CZ
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