A Case Report of A Rare Genetic Disorder
2017
This is the report of a 15 month old child admitted for afebrile seizures. The clinical condition improved. The presence of post axial polydactyly in all four extremeties prompted us to get an opinion from an ophthalmologist and led to the diagnosis of ‘BARDET BIEDL SYNDROME(BBS)’ . In BBS the onset of symptoms occurs in the first 10 years of life, poor night vision being the first symptom. This case is presented to highlight the importance of clinical examination. .
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