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Iranian Journal of Medical Sciences، جلد ۴۱، شماره ۶، صفحات ۵۳۹-۰
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Bardet-Biedl Syndrome with End Stage Renal Disease |
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| چکیده انگلیسی مقاله |
Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental retardation, along with a brief review of the literature. The patient had end stage renal disease and managed with dialysis. This case also exemplifies the need for multidisciplinary approach in the management of such cases. |
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| کلیدواژه‌های انگلیسی مقاله |
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| نویسندگان مقاله |
rajendrakumar parakh | rajendrakumar parakh
department and institutions, sdm college of medical sciences and hospital, sattur, dharwad-580009, state-karnataka, india
dhananjaya matapadi nairy | dhananjaya matapadi nairy
department and institutions, sdm college of medical sciences and hospital, sattur, dharwad-580009, state-karnataka, india
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| نشانی اینترنتی |
http://ijms.sums.ac.ir/index.php/IJMS/article/view/1278 |
| فایل مقاله |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
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| نوع مقاله منتشر شده |
Case Report(s) |
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