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[CHARGE syndrome in children with congenital choanal atresia]

E N Kotova1, M R Bogomilsky1

  • 1Pirogov Russian National Research Medical University, Moscow, Russia.

Vestnik Otorinolaringologii
|July 12, 2022
PubMed

Insights

CHARGE syndrome is frequently linked to congenital choanal atresia in children. Identifying this genetic syndrome early is crucial for managing associated anomalies and improving surgical outcomes.

Area of Science:

  • Medical Genetics
  • Pediatric Otolaryngology
  • Clinical Dysmorphology

Background:

  • Congenital choanal atresia is a condition that can be associated with genetic syndromes.
  • CHARGE syndrome is a well-known genetic disorder characterized by multiple congenital anomalies.
  • Understanding the link between these conditions is vital for comprehensive patient care.

Purpose of the Study:

  • To investigate the frequency of CHARGE syndrome in children diagnosed with congenital choanal atresia.
  • To describe the clinical features of CHARGE syndrome in this patient population.

Main Methods:

  • Literature review of CHARGE syndrome and choanal atresia.
  • Analysis of clinical data from patients with congenital choanal atresia.
  • Genetic analysis, specifically sequencing for CHD7 gene mutations.

Main Results:

  • CHARGE syndrome was identified in 18.8% of patients with congenital choanal atresia.
  • Malformations were often bilateral.
  • CHD7 gene mutations were found in 90% of patients meeting CHARGE syndrome criteria, suggesting genetic heterogeneity.

Conclusions:

  • Diagnosing CHARGE syndrome in children with choanal atresia is clinically significant.
  • Early diagnosis and management of associated conditions reduce surgical complications.
  • An interdisciplinary approach is essential for the examination and rehabilitation of these children.

Keywords:
CHARGE syndromechildrencongenital choanal atresia

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