title: Hypophosphatemic rickets: presenting features of fanconi-bickel syndrome.
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.
authors.affiliation: Department of Pediatric Medicine, Dr. B. C. Roy Postgraduate, Institute of Pediatric Sciences, West Bengal, Kolkata 700054, India.
authors.forename: Mahua
authors.initials: M
authors.lastname: Roy
authors.forename: K
authors.initials: K
authors.lastname: Bose
authors.forename: D K
authors.initials: DK
authors.lastname: Paul
authors.forename: Puja
authors.initials: P
authors.lastname: Anand