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Familial Laryngeal Cleft: Pediatric Detection Leads to Adult Diagnosis and Intervention

Hannah R Turbeville1, Robert J Morrison1, Glenn E Green1

  • 1Department of Otolaryngology-Head & Neck Surgery University of Michigan, Ann Arbor, MI, USA.

The Annals of Otology, Rhinology, and Laryngology
|July 9, 2025
PubMed

Insights

This case report details a family with laryngeal clefts, a condition causing chronic aspiration. Surgical repair improved symptoms, and genetic testing revealed a potential familial link requiring further investigation.

Area of Science:

  • Otolaryngology
  • Genetics
  • Pediatric Surgery

Background:

  • Laryngeal clefts are congenital anomalies that can cause chronic aspiration and swallowing difficulties.
  • Familial cases of laryngeal clefts are rarely reported, making their etiology unclear.

Purpose of the Study:

  • To describe a family with multiple members affected by laryngeal clefts.
  • To investigate a potential genetic component in the development of laryngeal clefts.

Main Methods:

  • Retrospective review of clinical data, surgical procedures, and imaging studies.
  • Genetic testing for familial variants.

Main Results:

  • Five of six family members diagnosed with laryngeal clefts, presenting with chronic aspiration symptoms.
  • Surgical repair of laryngeal clefts resulted in significant symptom improvement.
  • A familial variant in the FBN1 gene (c.466A>C; p.N156H) was identified, though its significance is uncertain.

Conclusions:

  • Laryngeal cleft may have an underlying genetic or environmental etiology.
  • Further case reporting and research are necessary to understand the inheritance patterns and genetic mutations associated with laryngeal clefts.
Abstract

Keywords:
adult laryngeal cleftdysphagiafamilial laryngeal cleftlaryngeal cleft

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