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[CHARGE association]

S Ben Becher1, S Ganouni, M Cheour

  • 1Service de pédiatrie, hôpital d'Enfants, Tunisie.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|December 1, 1994
PubMed
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CHARGE association is a rare condition with multiple anomalies. Early recognition is crucial for managing potential life-threatening respiratory and feeding issues in infants.

Area of Science:

  • Genetics and Developmental Biology
  • Pediatric Medicine
  • Clinical Dysmorphology

Background:

  • CHARGE association is a complex genetic disorder characterized by a wide spectrum of congenital anomalies.
  • Key features include coloboma, heart defects, choanal atresia, developmental delays, genital abnormalities, and ear malformations.

Observation:

  • A 4.5-month-old male infant presented with microphthalmia, hypotonia, and specific dysmorphic features.
  • Clinical examination revealed low-set ears, micrognathia, coloboma, left choanal atresia, and genital hypoplasia.
  • The infant's growth parameters were below normal for weight and height, with a larger head circumference.

Findings:

  • The infant exhibited several hallmark features consistent with CHARGE association.
  • While the infant had multiple anomalies, his heart was noted to be normal during examination.

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  • The constellation of findings underscores the phenotypic variability within CHARGE association.

    • Implications:

    • Prompt diagnosis of CHARGE association is vital for timely intervention and management.
    • Early identification allows for proactive management of potential complications such as respiratory distress and feeding difficulties.
    • Effective management can significantly improve outcomes and prevent life-threatening situations in affected infants.