Skeletal dysplasias: Growing therapy for growing bones

Research output: Contribution to journalReview articlepeer-review

Abstract

Skeletal dysplasias represent a large and diverse group of rare conditions affecting collagen and bone. They can be clinically classified based on radiographic and physical features, and many can be further defined at a molecular level (Bonafe et al., 2015). Early diagnosis is critical to proper medical management including pharmacologic treatment when available. Patients with severe skeletal dysplasias often have small chests with respiratory insufficiency or airway obstruction and require immediate intubation after birth. Thereafter a variety of orthopedic, neurosurgical, pulmonary, otolaryngology interventions may be needed. In terms of definitive treatment for skeletal dysplasias, there are few pharmacotherapeutic options available for the majority of these conditions. We sought to describe therapies that are currently available or under investigation for skeletal dysplasias.

Original languageEnglish (US)
Article number79
JournalFrontiers in Pharmacology
Volume8
Issue numberMAR
DOIs
StatePublished - Mar 6 2017

Keywords

  • Achondroplasia
  • Asfotase alfa
  • Enzyme replacement therapy
  • Hypophosphatasia
  • Mucopolysaccharidosis
  • Osteogenesis imperfecta

ASJC Scopus subject areas

  • Pharmacology
  • Pharmacology (medical)

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