Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p26 | (1) | ICCBH2013

Improvement in genu valgus deformity in hypophosphatemic rickets due to primary de Toni-DebrDebré-Fanconi syndrome treated with phosphate, calcitriol and alkali therapy

Bowden Sasigarn , Patel Hiren , Beebe Allan , McBride Kim

Background: Primary de Toni-Debré-Fanconi syndrome is a metabolic disorder characterized by hypophosphatemic rickets or osteomalacia, renal tubular acidosis, renal glycosuria, generalized aminoaciduria. It is a non-FGF23-mediated hypophosphatemic disorder, with primary defect in proximal tubular dysfunction. The orthopaedic sequela of this rare disorder in the literature is scarce.Presenting problem: We present a clinical case of a 10-year-old femal...