Branchio-oto-renal syndrome: a clinical case
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 sy...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
EDP Sciences
2019-01-01
|
| Series: | Journal of Oral Medicine and Oral Surgery |
| Subjects: | |
| Online Access: | https://www.jomos.org/articles/mbcb/full_html/2019/01/mbcb180054/mbcb180054.html |
| Summary: | 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. |
|---|---|
| ISSN: | 2608-1326 |