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Hypophosphatemic rickets: presenting features of fanconi-bickel syndrome
1Department of Pediatric Medicine, Dr. B. C. Roy Postgraduate, Institute of Pediatric Sciences, West Bengal, Kolkata 700054, India.
Abstract:
Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.
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