ABSTRACT
Orofaciodigital syndrome (OFDS) is a collective term for a rare inherited disorder that displays a wide phenotypic and genetic heterogeneity. The findings of diagnostic are the combination of the characteristic oral, facial and digital anomalies. In this heterogeneous group, the diagnosis of OFDI focuses on the association of the oro-dental, digital and cerebral malformations, polycystic kidney disease and several other manifestations. In this article, we report and discuss the case of a girl with OFDI syndrome, who presented as a peculiar phenotype on clinical examination. The present case was diagnosed at 24 months old and re-examined at 16 years old. The imagistic and cephalometric analyses were performed to investigate the alterations in the facial and skeletal bones and also neurological, renal and dental development. The differential diagnosis of this entity is discussed.
