Three years of follow-up of otodental syndrome in 3-year-old Chinese boy: a rare case report

Ji-Mei Su,Xin-Wen Huang,Janak L Pathak,Zhi-Fang Wu,Su-Juan Zeng,Xiao-Wei Ye

doi:10.1186/s12903-019-0860-z

Abstract

BackgroundOtodental syndrome is an exceptionally rare autosomal dominant condition characterized by a delayed eruption of posterior teeth, globodontia, lisping, and sensorineural hearing loss. In this case report, we reported a 3-year-old Chinese boy with the otodental syndrome.Case presentationA 3-year-old Chinese boy was referred to our hospital with complaint of no eruption of primary canines and molars. Three years follow-up showed lately erupted bulbous primary canines with hypoplastic enamel spot, globe-shaped primary molars and sensorineural hearing loss at 4 and a half-year-old age. We diagnosed otodental syndrome in the patient’s mother with hearing loss at 16-year-old age. Gene sequencing and analysis of deafness-related genes GJB2, GJB3, SLC26A4, and mtDNA did not reveal any mutation or SNPs in the patient and his mother.ConclusionsThis case report highlights the importance of detailed medical, dental, and family history examination, as well as multi-disciplinary teamwork for diagnosis and treatment of otodental syndrome.

Highlights

Otodental syndrome is an exceptionally rare autosomal dominant condition characterized by a delayed eruption of posterior teeth, globodontia, lisping, and sensorineural hearing loss
Otodental syndrome (OMIM 166750) is a rare autosomal dominant condition characterized by grossly enlarged globe-shaped canine and molar teeth, and sensorineural hearing loss [1]
The condition has been reported under various names: familial otodentodysplasia [4], otodental dysplasia [2, 5], globodontia [1, 6, 7] and oculooto-dental (ODD) syndrome [8]

Summary

Conclusions

Globodontia, enamel hypoplasia, odontoma, and delayed eruption of primary canines and molars were the main dental phenotype of our patient. Globodontia is a diagnostic feature of the otodental syndrome, which often provides the path to the discovery of the associated hearing loss. This case report provides new information regarding the eruption time of every primary canines and molar teeth in this patient compared to the same age healthy children. This would make dentists more familiar with the diagnosis and management of the otodental syndrome.

Background

Discussion