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[CHARGE association].

M J Costeira1, I Ruivo, C Miguel

  • 1Serviço de Pediatria, Hospital de S. João, Porto.

Acta Medica Portuguesa
|February 18, 1999
PubMed
Summary
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Posterior choanal atresia, a congenital defect, can be part of CHARGE association. This review details the clinical findings necessary for diagnosing this complex condition in affected infants.

Area of Science:

  • Otolaryngology, Genetics, Pediatrics

Background:

  • Posterior choanal atresia is a congenital malformation of the nasal passage.
  • It can occur in isolation or as part of a broader syndrome.
  • CHARGE association is a recognized pattern of congenital anomalies.

Observation:

  • The study presents three cases of CHARGE association.
  • CHARGE association includes coloboma, heart defects, developmental/CNS abnormalities, genital hypoplasia, and ear anomalies/deafness.
  • Posterior choanal atresia was a feature in the observed cases.

Findings:

  • Detailed review of clinical findings associated with CHARGE association.
  • Emphasis on the diagnostic criteria for CHARGE association.
  • Highlights the co-occurrence of posterior choanal atresia within CHARGE association.

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Implications:

  • Improved diagnostic accuracy for CHARGE association.
  • Enhanced understanding of the spectrum of anomalies in CHARGE association.
  • Guides clinical evaluation and management of infants with posterior choanal atresia and suspected CHARGE association.