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Related Experiment Videos

Familial vocal fold paralysis.

S Ali Raza1, S Mahendran, Nazneen Rahman

  • 1Department of Otolaryngology, University Hospital of Wales, Cardiff, UK. syedaliraza63@hotmail.com

The Journal of Laryngology and Otology
|January 23, 2003
PubMed
Summary

Congenital bilateral abductor vocal fold paralysis, a rare condition, was observed in siblings. Parental consanguinity suggests an autosomal recessive inheritance pattern, linked to a chromosome 13 inversion.

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Area of Science:

  • Genetics
  • Pediatrics
  • Otolaryngology

Background:

  • Congenital bilateral abductor vocal fold paralysis is an exceptionally rare condition.
  • Familial cases are seldom reported, with most exhibiting autosomal dominant or X-linked recessive inheritance.
  • Previous literature lacks extensive documentation on this specific disorder's genetic basis.

Observation:

  • This study details a brother and sister presenting with neonatal stridor caused by congenital bilateral abductor vocal fold paralysis.
  • First-degree parental consanguinity was noted, hinting at an autosomal recessive inheritance pattern.
  • Karyotype analysis identified a paracentric balanced inversion of chromosome 13 in both affected siblings and their unaffected mother.

Findings:

  • The presence of the same chromosomal abnormality in affected siblings and an unaffected parent suggests a complex inheritance or variable penetrance.

Related Experiment Videos

  • The findings challenge previously assumed inheritance patterns for familial congenital bilateral abductor vocal fold paralysis.
  • This case highlights the potential role of chromosomal inversions in rare pediatric respiratory conditions.

    • Implications:

    • This case expands the understanding of the genetic underpinnings of congenital bilateral abductor vocal fold paralysis.
    • It suggests that autosomal recessive inheritance, potentially involving chromosomal abnormalities, should be considered in familial cases.
    • Further research into chromosome 13 abnormalities and their link to vocal fold dysfunction is warranted.