| Autor: |
DOSI, RUPAL V., BHATT, NIKITA R., AMBALIYA, ANNIRUDH P., SONUNE, NITIN N., PATELL, RUSHAD D. |
| Předmět: |
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| Zdroj: |
Journal of Clinical & Diagnostic Research; Sep2013, Vol. 7 Issue 9, p2010-2011, 2p |
| Abstrakt: |
Bardet Biedel Syndrome (BBS) is a rare autosomal recessive disease which is characterized by obesity, retinitis pigmentosa, polydactyly, neuro-developmental retardation and renal defects amongst others. It is a genetically heterogeneous ciliopathic disorder with inter and intra familial variations. Very few cases have been reported from India. We are reporting here a case of an adolescent girl who was diagnosed at the age of 16, with additional features of insulin resistance and non-alcoholic fatty liver disease. A review of recent literature and a short discussion on the care and management of this uncommon condition follow. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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