Jeune syndrome (JS) is a rare disease, with systemic manifestations, such as renal and hepatic insufficiency, retinal pigmentation, and respiratory insufficiency. Etiological factors have not been completely elucidated, but the molecular biology has contributed to the diagnosis and understanding of JS with DNA sequencing, showing the association among polymorphisms in different genes DYNC2H1 (MIM 603297) and TCTEX1D2 (MIM617353), which are the main genes associated with JS. There are a few reports on buccal findings in these patients; here, we present dental anomalies and clinical oral findings in a patient with JS, focusing on a multidisciplinary approach for rehabilitation. A 15-year-old boy with JS was referred to our dental clinic. Clinical and radiographic examination revealed the presence of dental agenesis, taurodontism, and geographic tongue with lobulations. The treatment plan consisted of preventive, restorative, surgical, and oral rehabilitation. We observed that the treatment improved the patient’s quality of life owing to improved functions, maintenance of oral health, and above all, self-esteem. Clinical findings in this case may contribute to a better characterization of JS and other ciliopathies.
© 2020 Special Care Dentistry Association and Wiley Periodicals, Inc.