Dental radiographic findings in 18 individuals with SATB2-associated syndrome.

OBJECTIVE: To characterize the radiographic dental phenotype of individuals with SATB2-associated syndrome (SAS).

MATERIALS AND METHODS: Participants were evaluated by a multidisciplinary team during a concurrent clinic conducted during the 1st international SAS family meeting held in 2017 at a single institution. Whenever possible, panoramic and/or periapical radiographs were obtained in clinic or previously obtained and provided by the caregiver.

RESULTS: Of the 37 individuals evaluated, 18 (12 males, median age 8.5 years) underwent radiographic examination. Dental radiographs revealed anomalies in all individuals starting at 2 years of age. The most consistent finding was delayed development of the mandibular second bicuspids (83%) with other common radiographic findings including delayed development of the roots of the permanent teeth (78%), severely rotated (56%) or malformed teeth (44%), and taurodontism (44%).

CONCLUSIONS: Dental anomalies are fully penetrant and can be documented radiographically in all individuals with SAS.

CLINICAL RELEVANCE: Dental radiographic findings of delayed second premolar development and delayed development of permanent root formation, especially concurrent with findings of taurodontism and malformed teeth, support a clinical suspicion for SAS and should help differentiate SAS from other neurodevelopmental syndromes.