Advertisement

Achondroplasia

  • Heather Hansen
Chapter

Abstract

Achondroplasia is the most common skeletal dysplasia. It is due to a gain of function of the fibroblast growth factor 3 receptor. It is inherited in an autosomal dominant pattern. Those affected with achondroplasia have multiple skeletal manifestations including: short stature, spinal stenosis, genu varum, and foramen magnum stenosis.

Keywords

Achondroplasia FGFR3 Dwarfism Short stature Interpedicular narrowing 

Bibliography

  1. 1.
    Sponseller PD, Ain MC. The skeletal dysplasias. In: Weinstein SL, editor. Lovell and Winter’s pediatric orthopaedics, vol. 1. 7th ed. Philadelphia: Wolters Kluwer; 2014. p. 180–6. Print.Google Scholar
  2. 2.
    Herring JA. Skeletal dysplasias. In: Herring JA, editor. Tachjian’s pediatric orthopaedics: from the Texas Scottish Rite Hospital, vol. 2. 5th ed. Philadelphia: Elsevier Saunders; 2014. p. 370–85. Print.Google Scholar
  3. 3.
    Shirley ED, Ain MC. Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg. 2009;17:231–41.CrossRefPubMedGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Heather Hansen
    • 1
  1. 1.Division of Pediatric Orthopaedic Surgery, Department of OrthopaedicsAlpert Medical School of Brown UniversityProvidenceUSA

Personalised recommendations