Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy

Am J Med Genet A. 2016 Jan;170A(1):42-51. doi: 10.1002/ajmg.a.37394. Epub 2015 Sep 23.


Achondroplasia is the most common inherited disorder of bone growth (skeletal dysplasia). Despite this fact, consistent and evidence-based management approaches to recognized, life-threatening complications, such as foramen magnum stenosis, are lacking. This study aims to outline best practice, based on evidence and expert consensus, regarding the diagnosis, assessment, and management of foramen magnum stenosis in achondroplasia during infancy. A panel of 11 multidisciplinary international experts on skeletal dysplasia was invited to participate in a Delphi process. They were: 1) presented with a list of 26 indications and a thorough literature review, 2) given the opportunity to anonymously rate the indications and discuss in face to face discussion; 3) edit the list and rate it in a second round. Those indications with more than 80% agreement were considered as consensual. After two rounds of rating and a face-to-face meeting, consensus was reached to support 22 recommendations for the evaluation and treatment of foramen magnum stenosis in infants with achondroplasia. These recommendations include indications for surgical decompression, ventriculomegaly, and hydrocephalus, sleep-disordered breathing, physical exams and the use of polysomnography and imaging in this condition. We present a consensus-based best practice guidelines consisting of 22 recommendations. It is hoped that these guidelines will lead to more uniform and structured evaluation, standardizing care pathways, and improving mortality and morbidity outcomes for this cohort.

Keywords: achondroplasia; foramen magnum stenosis; magnetic resonance imaging; sleep-disordered breathing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Achondroplasia / complications
  • Achondroplasia / diagnosis
  • Achondroplasia / therapy*
  • Adolescent
  • Adult
  • Child
  • Constriction, Pathologic
  • Female
  • Foramen Magnum / pathology*
  • Humans
  • Image Processing, Computer-Assisted / methods
  • Infant
  • Male
  • Multimodal Imaging / methods
  • Polysomnography
  • Practice Guidelines as Topic / standards*
  • Prognosis
  • Sleep Apnea Syndromes / diagnosis
  • Sleep Apnea Syndromes / etiology
  • Sleep Apnea Syndromes / therapy*
  • Young Adult