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Central nervous system malformations in the CHARGE association.

A E Lin1, J R Siebert, J M Graham

  • 1Department of Medical Genetics, Western Pennsylvania Hospital, Pittsburgh 15224.

American Journal of Medical Genetics
|November 1, 1990
PubMed
Summary

CHARGE association frequently involves central nervous system (CNS) malformations, particularly forebrain anomalies like arhinencephaly and holoprosencephaly. These findings suggest potential insights into the developmental mechanisms underlying CHARGE association.

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Area of Science:

  • Neurology
  • Genetics
  • Developmental Biology

Background:

  • CHARGE association is a complex genetic disorder with diverse clinical manifestations.
  • Central nervous system (CNS) malformations are recognized but not fully characterized in CHARGE association.

Purpose of the Study:

  • To investigate the prevalence and types of CNS malformations in patients with CHARGE association.
  • To identify potential correlations between CNS anomalies and other CHARGE features.

Main Methods:

  • Review of 144 patients diagnosed with CHARGE association.
  • Analysis of neuroimaging data (computerized axial tomography scans) and postmortem examinations for 47 patients.
  • Correlation analysis with clinical features, including choanal atresia.

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Main Results:

  • 55% of examined patients (26/47) exhibited definite CNS malformations.
  • Forebrain anomalies, including arhinencephaly and holoprosencephaly, were predominant.
  • CNS malformations showed a strong association with choanal atresia.

Conclusions:

  • Forebrain anomalies are a significant feature of CHARGE association.
  • The identified CNS malformations may offer clues into the abnormal morphogenesis mechanisms in CHARGE.
  • Choanal atresia is a key indicator for CNS malformations in CHARGE association.