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...
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| Main Authors: | , , |
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| Format: | Book |
| Published: |
EDP Sciences,
2019-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| 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. |
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| Item Description: | 2608-1326 10.1051/mbcb/2018033 |