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[The CHARGE association].

C Allouche1, P Sarda, F Tronc

  • 1Service de néonatologie et génétique médicale, hôpital Saint-Charles, Montpellier, France.

Pediatrie
|January 1, 1989
PubMed
Summary
This summary is machine-generated.

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The CHARGE association, a rare condition with multiple malformations, often includes coloboma and choanal atresia. Prognosis is guarded due to associated visceral and cerebral issues.

Area of Science:

  • Genetics and Developmental Biology
  • Medical Syndromes
  • Ophthalmology

Context:

  • CHARGE association is a complex congenital disorder.
  • Characterized by coloboma and/or choanal atresia, among other malformations.
  • Presents with variable severity, including complete and incomplete forms.

Purpose:

  • To present a series of 8 cases of CHARGE association.
  • To discuss the clinical features and prognosis.
  • To explore potential etiological mechanisms.

Summary:

  • Eight cases (5 complete, 3 incomplete) of CHARGE association were analyzed.
  • Severe prognosis is linked to visceral (e.g., cardiac) and cerebral malformations.
  • While often sporadic, Mendelian inheritance is possible; neural crest migration abnormalities are implicated.

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Impact:

  • Highlights the severity and complexity of CHARGE association.
  • Informs clinical management and genetic counseling.
  • Contributes to understanding the pathogenesis of neurocristopathies.