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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with

Klane K White1, Shawn E Parnell2, Yemiserach Kifle3

  • 1Department of Orthopedics and Sports Medicine, Seattle Children's Hospital, University of Washington, Seattle, Washington.

American Journal of Medical Genetics. Part A
|September 24, 2015
PubMed

Insights

Children with achondroplasia often have breathing issues. While polysomnography and MRI are used, cord compression, not central sleep apnea or stenosis, best predicts the need for foramen magnum decompression surgery.

Area of Science:

  • Pediatric Orthopedics
  • Pediatric Neurology
  • Sleep Medicine

Background:

  • Achondroplasia is associated with craniovertebral abnormalities, including foramen magnum stenosis.
  • These abnormalities can lead to spinal cord compression and central sleep apnea, posing a risk of sudden death.
  • Current screening often involves polysomnography and cervical spine MRI, but indications for surgical decompression need clarification.

Purpose of the Study:

  • To evaluate the correlation between polysomnography findings, cervical spine MRI parameters, and the need for surgical decompression in children with achondroplasia.
  • To identify the most reliable indicators for surgical intervention in this population.

Main Methods:

  • Retrospective review of medical records for children with achondroplasia who underwent both polysomnography and cervical spine MRI.
  • Analysis of polysomnography data (apnea-hypopnea index, central sleep apnea), MRI findings (foramen magnum stenosis), and surgical decompression outcomes.
  • Statistical correlation analysis between diagnostic findings and surgical intervention.

Main Results:

  • All 17 included patients had abnormal apnea-hypopnea indices; 6/17 had central sleep apnea.
  • Five patients (29%) required foramen magnum decompression.
  • No significant correlation was found between central sleep apnea and MRI-detected foramen magnum stenosis.
  • T2 signal abnormalities in the cord or clinical clonus were the strongest predictors of surgical decompression.

Conclusions:

  • Screening polysomnography is valuable but does not reliably correlate with MRI findings of foramen magnum stenosis in achondroplasia.
  • Foramen magnum decompression in achondroplasia is best indicated by evidence of cord compression (T2 signal abnormality or clinical signs like clonus) rather than solely by sleep study or stenosis severity.
  • Further research may refine screening protocols and surgical decision-making for these complex patients.

Keywords:
achondroplasiaforamen magnum stenosismagnetic resonance imagingsleep disorders

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