title: Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy.
abstract: We present two siblings affected with opsismodysplasia (OPS), a rare skeletal dysplasia caused by mutations in the inositol polyphosphate phosphatase-like 1 gene. The skeletal findings include short stature with postnatal onset micromelia, marked platyspondyly, squared metacarpals, delayed skeletal ossification, metaphyseal cupping, and postnatal micromelia. Respiratory compromise, delayed ambulation, and progressive lower extremity deformities are described. The severity of findings is variable. Renal phosphate wasting is associated with severe bone demineralization and a more severe phenotype. This report represents the first described cases of opsismodysplasia treated with intravenous bisphosphonate (pamidronate). Surgical management for lower extremity deformities associated with OPS is also reviewed.
  
  
  METHODS
  IV Case series.
authors.affiliation: Orthopedics and Sports Medicine, Seattle Children's Hospital, University of Washington , Seattle, WA , USA.
authors.forename: Ansab
authors.initials: A
authors.lastname: Khwaja
authors.affiliation: Department of Radiology, Seattle Children's Hospital, University of Washington , Seattle, WA , USA.
authors.forename: Shawn E
authors.initials: SE
authors.lastname: Parnell
authors.affiliation: Division of Endocrinology, Department of Pediatrics, Seattle Children's Hospital, University of Washington , Seattle, WA , USA.
authors.forename: Kathryn
authors.initials: K
authors.lastname: Ness
authors.affiliation: Orthopedics and Sports Medicine, Seattle Children's Hospital, University of Washington , Seattle, WA , USA.
authors.forename: Viviana
authors.initials: V
authors.lastname: Bompadre
authors.affiliation: Orthopedics and Sports Medicine, Seattle Children's Hospital, University of Washington , Seattle, WA , USA.
authors.forename: Klane K
authors.initials: KK
authors.lastname: White
keywords: bisphosphonates; genu varum; metabolic bone disease; opsismodysplasia; scoliosis; skeletal dysplasias