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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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Abnormal basiocciput development in CHARGE syndrome

K Fujita1, N Aida, Y Asakura

  • 1Department of Radiology, Endocrinology, Kanagawa Children's Medical Center, Kanagawa, Japan. kazu_kcmc@yahoo.co.jp

AJNR. American Journal of Neuroradiology
|December 30, 2008
PubMed

Insights

Basioccipital hypoplasia, a rare skull base anomaly, is common in CHARGE syndrome. This condition, often severe, is linked to basilar invagination and Chiari malformation in affected children.

Area of Science:

  • Medical Imaging
  • Genetics
  • Pediatric Radiology

Background:

  • CHARGE syndrome is a complex genetic disorder caused by CHD7 mutations.
  • Head and neck imaging is crucial for assessing CHARGE syndrome-related abnormalities.
  • Basioccipital hypoplasia is a newly identified anomaly in CHARGE syndrome patients.

Purpose of the Study:

  • To determine the incidence and severity of basioccipital hypoplasia in CHARGE syndrome.
  • To investigate associated anomalies, such as basilar invagination and Chiari malformation.

Main Methods:

  • Retrospective review of sagittal MR images from 8 CHARGE syndrome patients.
  • Consensual evaluation of basiocciput normality/hypoplasia by two radiologists.
  • Measurement of basion-to-sphenoid distances and comparison with 70 age-matched controls.

Main Results:

  • Basioccipital hypoplasia was present in 7 of 8 CHARGE syndrome patients, severe in 6.
  • Associated anomalies included basilar invagination (5 patients) and Chiari type I malformation with syringomyelia (1 patient).

Conclusions:

  • Basioccipital hypoplasia is a prevalent finding in CHARGE syndrome.
  • Basilar invagination frequently co-occurs with basioccipital hypoplasia in this population.
Abstract

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