Congenital glottic stenosis as a clinical manifestation ofFREM1-associated disorders in a neonate with respiratory distress and aphonia

Abstract

A female infant born at 38 weeks and 2 days via induced vaginal delivery was admitted to the neonatal intensive care unit for respiratory distress soon after birth. Noted to have aphonia on examination, the patient underwent direct laryngoscopy and was diagnosed with an anterior glottic web and subglottic stenosis. The patient underwent a genetic workup including whole exome sequencing which resulted in a diagnosis of aFREM1-associated disorder. Congenital glottic webs and subglottic stenoses have not been previously described as clinical manifestations ofFREM1-associated disorders.