Genetic and Metabolic Conditions

Pediatr Clin North Am. 2020 Feb;67(1):23-43. doi: 10.1016/j.pcl.2019.09.005.

Abstract

A wide of array of patients with genetic and metabolic conditions present with orthopedic manifestations. This article discusses the most common conditions seen in a typical pediatric orthopedic practice. A few pearls are highlighted for each condition to alert practitioners to some of the pitfalls encountered when treating these often highly challenged children.

Keywords: Down syndrome; Ehlers-Danlos syndrome; Muscular dystrophy; Neurofibromatosis; Osteogenesis imperfecta; Rickets; Skeletal dysplasia.

Publication types

  • Review

MeSH terms

  • Achondroplasia / complications
  • Child
  • Down Syndrome / complications
  • Ehlers-Danlos Syndrome / complications
  • Genetic Diseases, Inborn / complications
  • Humans
  • Marfan Syndrome / complications
  • Metabolic Diseases / complications
  • Mucopolysaccharidoses / complications
  • Muscular Dystrophy, Duchenne / complications
  • Musculoskeletal Diseases / diagnosis*
  • Musculoskeletal Diseases / etiology*
  • Osteochondrodysplasias / complications
  • Osteogenesis Imperfecta / complications
  • Phenotype
  • Rickets / complications