Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations.
Oculo-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.
Christina
C
Hadjichristou
Violetta
V
Christophidou-Anastasiadou
Athina
A
Bakopoulou
George A
GA
Tanteles
Maria A
MA
Loizidou
Kyriacos
K
Kyriacou
Andreas
A
Hadjisavvas
Konstantinos
K
Michalakis
Argyris
A
Pissiotis
Petros
P
Koidis
D000328:Adult; D018031:Connexin 43 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006801:Humans; D009065:Mouth Rehabilitation / Q000379:methods*; D009154:Mutation; D010641:Phenotype; D013576:Syndactyly / Q000235:genetics*; D014071:Tooth Abnormalities / Q000235:genetics*
D018031:Connexin 43; C500216:GJA1 protein, human