Opsismodysplasia: Phosphate wasting osteodystrophy responds to bisphosphonate therapy

Opsismodysplasia: Phosphate wasting osteodystrophy responds to bisphosphonate therapy

We present two siblings affected with opsismodysplasia, a rare skeletal dysplasia caused by mutations in the INPPL1 gene. The skeletal findings include short stature with postnatal onset micromelia, marked platyspondyly, squared metacarpals, delayed skeletal ossification, metaphyseal cupping and po...

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Bibliographic Details
Main Authors: Ansab eKhwaja, Shawn E Parnell, Kathryn eNess, Viviana eBompadre, Klane K White
Format: Article
Language:English
Published: Frontiers Media S.A. 2015-06-01
Series:Frontiers in Pediatrics
Subjects:
Genu Varum
Scoliosis
metabolic bone disease
Bisphosphonates
Skeletal Dysplasias
Opsismodysplasia
Online Access:http://journal.frontiersin.org/Journal/10.3389/fped.2015.00048/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fped.2015.00048/full

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