| A Case of Branchio-Oto-Renal Syndrome |
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Sung Kee Kim, Young Gyun Kim, Se Chang Ham, Se Wook Oh, Yong Won Park, Sang Woo Kim |
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Department of Pediatrics, College of M edicine, Inje University, Sang-Gye Paik Hospital*, Seoul, Korea |
| Branchio-Oto-Renal Syndrome 1례 |
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김성기, 김영균, 함세창, 오세욱, 박용원, 김상우 |
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인제대학교 의과대학 소아과학교실 |
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| Abstract |
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Branchio-oto-renal(BOR) syndrome is an autosomal dominant disorder. The pathophysiology of
this syndrome is unknown. BOR syndrome has a wide range of clinical manifestations affecting
the branchial, auditory and renal systems. Associated abnormalities of the face, lacrimal duct,
palate and ureters have also been described. However, the major clinical findings associated and/
or ear pits, and renal anormaly.
We experienced a case of a 15-day-old male newborn who had visited our hospital for deformed
auricle and atresia of external auditory canal found at birth. We report this case with a review of
the related literatures. |
| Key Words:
Branchial cleft, Renal anormaly, Deformed auricle, Atresia of external auditory canal |
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