Branchio-oto-renal syndrome: A clinical case

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Abstract

Observation: A 19-week-old patient seen in an oral dermatology clinic had small labial commissures pits associated with auricular abnormalities. Similar clinical elements were found in the family medical history. A diagnosis of branchio-oto-renal syndrome (BOR) was quickly evoked. Commentary: BOR syndrome is a rare disease. This autosomal dominant pathology is characterized by facial lesions and renal abnormalities. Diagnosis is based on many clinical criteria. An optional genetic study can sometimes assist in diagnosis.

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Lagarde, X., Fenelon, M., & Fricain, J. C. (2019). Branchio-oto-renal syndrome: A clinical case. Journal of Oral Medicine and Oral Surgery, 25(1). https://doi.org/10.1051/mbcb/2018033

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