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A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome?

H V Toriello1, J V Higgins

  • 1Spectrum Health Genetics Services, Grand Rapids, MI 49503, USA. helga.toriello@spectrum-health.org

Clinical Dysmorphology
|May 13, 1999
PubMed

Insights

This study identifies a rare genetic disorder in a child with choanal atresia, heart defects, and prominent ears. The patient

Area of Science:

  • Medical Genetics
  • Pediatric Medicine
  • Clinical Dysmorphology

Background:

  • A rare genetic condition was initially described by Burn et al. in 1992.
  • The syndrome presents with a constellation of congenital anomalies.

Observation:

  • A pediatric patient presented with choanal atresia, cardiac defects, prominent ears, and hearing loss.
  • The child also exhibited minor facial anomalies and significant short stature.

Findings:

  • The patient's phenotype aligns with the previously reported syndrome.
  • The addition of significant short stature expands the known phenotypic variability of this condition.

Implications:

  • This case expands the understanding of a rare genetic disorder.
  • Further research is warranted to elucidate the genetic basis and full spectrum of this condition.

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