DOI: 10.11607/ijp.5130, PubMed ID (PMID): 28319210Pages 280-285, Language: EnglishHadjichristou, Christina / Christophidou-Anastasiadou, Violetta / Bakopoulou, Athina / Tanteles, George A. / Loizidou, Maria A. / Kyriacou, Kyriacos / Hadjisavvas, Andreas / Michalakis, Konstantinos / Pissiotis, Argyris / Koidis, PetrosOculo-dento-digital dysplasia (ODDD) is a congenital disorder manifesting with multiple phenotypic abnormalities involving the face, eyes, teeth, and limbs in addition to neurologic symptomatology. This report aims to present a female patient with ODDD who was referred due to extensive oral restorative needs. The presence of hypoplastic enamel triggered further evaluation. Characteristic facies with hypoplastic alae nasi and syndactyly offered greater insight into the phenotype of the syndrome. Clinical suspicion was confirmed by genetic sequencing revealing heterozygous mutation in GJA1. It is important to be aware of genetic disorders associated with characteristic dental malformations to offer appropriate counseling and treatment.
