التفاصيل البيبلوغرافية
| العنوان: |
Branchio-Oto-Renal (BOR) Syndrome-an uncommon form of congenital deafness |
| المؤلفون: |
Koirala, K, Guagain, RPS, Bhusal, CL |
| المصدر: |
Journal of Institute of Medicine Nepal; Vol. 29 No. 1 (2007); 48-50 ; 1993-2987 ; 1993-2979 |
| بيانات النشر: |
Institute of Medicine, Tribhuvan University |
| سنة النشر: |
2007 |
| المجموعة: |
Nepal Journals Online (NepJOL) |
| مصطلحات موضوعية: |
Branchio-Oto-Renal syndrome, hearing loss, renal agenesis |
| الوصف: |
Case report: Children with congenital deafness are common referrals to the Pediatric Otolaryngology unit of the Teaching Hospital. Branchio-Oto-Renal (BOR) Syndrome, an autosomal dominant syndromic form of deafness presents variably with the presence of auricular or preauricular pits in association with hearing loss, branchial sinuses and renal abnormalities ranging from renal hypoplasia to agenesis. Renal manifestations are least common and mostly missed. The present case report highlights a case of Branchio-Oto-Renal syndrome detected at the age of 5 years with unilateral renal agenesis and normal renal function. Key words: Branchio-Oto-Renal syndrome, hearing loss, renal agenesis The full text of this paper is available at Journal of Institute of Medicine website |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
unknown |
| العلاقة: |
https://www.nepjol.info/index.php/JIOM/article/view/647Test |
| الإتاحة: |
https://www.nepjol.info/index.php/JIOM/article/view/647Test |
| رقم الانضمام: |
edsbas.E8D3217 |
| قاعدة البيانات: |
BASE |
