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

Objective: This case report describes five related patients presenting with signs and symptoms of chronic aspiration who were found to have laryngeal clefts requiring surgical intervention. This case highlights a possible underlying genetic cause of laryngeal cleft and need for further study in this area. Methods: A retrospective review of patients’ clinical presentations, surgical intervention, procedural photographs and imaging studies was conducted. Results: Five members of a family of 6 demonstrated symptoms consistent with chronic aspiration that became more evident during the COVID pandemic due to social isolation and perceived social pressure around coughing. One child had a history of swallowing difficulty and was found to have a laryngeal cleft on operative evaluation. This led to further evaluation of the rest of the family, with all 4 children and their father having an identifiable laryngeal cleft. All showed marked improvement after surgical repair. Genetic testing was performed and identified a familial variant of uncertain significance in the FBN1 gene (c.466A > C; p.N156H). Conclusion: An unidentified genetic or environmental component may contribute to laryngeal cleft. There is insufficient reporting of case of related patients to identify an inheritance pattern or specific genetic mutation. Further case reporting and study is needed in this area.