Otodental syndrome in a 6-year-old child: A report of a rare condition

Abstract

Otodental syndrome (ODS) is a rare autosomal dominant disorder characterized by globodontia, sensorineural hearing loss, and sometimes eye coloboma. First described in 1969 by Denis and Csiba, ODS features dental anomalies in number, eruption, size, shape, and structure. It predominantly affects primary and permanent dentition, sparing incisors and often resulting in premolar absence and delayed eruption. A 6-year-old girl presented with delayed tooth eruption and morphological alterations, experiencing pain during brushing and recent hearing loss. Her father had similar dental anomalies and hearing loss. Examination revealed severely altered teeth with bulbous crowns, normal incisors, and no oral mucosal changes. Radiographs showed agenesis of premolars and complex odontoma-like lesions. The patient had no systemic diseases. ODS is linked to microdeletions on chromosomes 11q13.3 and 20q13.1, and mutations in FGF3 and other dental development genes. Diagnosis is challenging due to variable expressivity and incomplete penetrance. Differential diagnosis includes syndromes with sensorineural hearing loss and dental abnormalities. Effective ODS management requires a multidisciplinary approach, often involving surgical removal of odontomas, planned extractions, and orthodontic treatment. Preventive measures and continuous monitoring are essential to improve outcomes. Genetic counseling and specialized care for hearing loss are recommended.