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Related Experiment Videos

The CHARGE association in a newborn infant

M Akisü1, F Ozkinay, R Ozyürek

  • 1Ege University Faculty of Medicine, Izmir.

The Turkish Journal of Pediatrics
|August 26, 1998
PubMed
Summary

CHARGE association is a rare condition involving multiple congenital anomalies. Early recognition of choanal atresia or coloboma is crucial for diagnosing this complex syndrome in newborns.

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Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • CHARGE association is a complex congenital disorder characterized by a nonrandom pattern of anomalies.
  • Key features include choanal atresia, coloboma, heart defects, growth and developmental retardation, genital hypoplasia, and ear abnormalities.

Observation:

  • This report details a male newborn diagnosed with CHARGE association.
  • The infant presented with micrognathia, high-arched palate, facial asymmetry, broad nasal bridge, hypertelorism, asymmetric eye size, and left microphthalmia.
  • Radiological examination revealed hemivertebrae in the thoracic region.

Findings:

  • Most CHARGE association cases are sporadic, with normal karyotype findings, though autosomal and recessive transmissions have been documented.
  • Transmission and recurrence risks for CHARGE association remain largely unknown.

Implications:

  • The presence of choanal atresia and/or coloboma should prompt clinicians to investigate for other associated anomalies.
  • Early and comprehensive diagnosis of CHARGE association is vital for appropriate patient management and genetic counseling.

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