Familial vocal fold paralysis

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.
• 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.