Opsismodysplasia: Phosphate wasting osteodystrophy responds to bisphosphonate therapy

• Main Authors: Ansab eKhwaja (Author), Shawn E Parnell (Author), Kathryn eNess (Author), Viviana eBompadre (Author), Klane K White (Author)
• Format: Book
• Published: Frontiers Media S.A., 2015-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 pos...