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Skeletal Dysplasias

  • Robert C. Olney
  • Michael B. Bober
Chapter

Abstract

The skeletal dysplasias (or more appropriately, the osteochondrodysplasias) are genetic disorders that affect the development of the skeletal and cartilaginous tissues. They are of interest to the pediatric endocrinologist not only because most have an impact on linear growth causing short stature but also for what these disorders teach us about the mechanisms and regulation of growth. Current and emerging treatments for specific syndromes are often managed by pediatric endocrinology.

Keywords

Achondroplasia Acromesomelic dysplasia, type Maroteaux Arm span Bisphosphonates Blomstrand chondrodysplasia C-type natriuretic peptide Dwarfism Fibroblast growth factor receptor-3 Hypochondroplasia Jansen-type metaphyseal chondrodysplasia Léri-Weill osteodyschondrosteosis Madelung deformity Multiple epiphyseal dysplasia Natriuretic peptide receptor-B Osteochondrodysplasia Osteogenesis imperfecta Pamidronate Parathyroid hormone receptor Parathyroid hormone-related protein Recombinant human growth hormone Short-stature homeobox-containing gene SHOX Skeletal dysplasia Upper-to-lower segment ratio Zoledronic acid 

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© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Endocrinology, Diabetes and MetabolismNemours Children’s Specialty CareJacksonvilleUSA
  2. 2.Skeletal Dysplasia Program, Medical GeneticsNemours/A.I. du Pont Hospital for ChildrenWilmingtonUSA

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