Congenital glottic stenosis as a clinical manifestation of FREM1-associated disorders in a neonate with respiratory distress and aphonia

Kayla Dahlquist; Taylor Meyers; John Paul Schacht; Rebecca Hicks

doi:10.1136/bcr-2023-257133

Congenital glottic stenosis as a clinical manifestation of FREM1-associated disorders in a neonate with respiratory distress and aphonia

BMJ Case Rep. 2024 May 6;17(5):e257133. doi: 10.1136/bcr-2023-257133.

Authors

Kayla Dahlquist¹, Taylor Meyers², John Paul Schacht^{2

3}, Rebecca Hicks³

Affiliations

¹ Pediatrics, Walter Reed National Military Medical Center, Bethesda, Maryland, USA [email protected].
² Pediatrics, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.
³ Genetics, Pediatrics, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.

PMID: 38719265
PMCID: PMC11085972 (available on 2026-05-06)
DOI: 10.1136/bcr-2023-257133

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 a FREM1-associated disorder. Congenital glottic webs and subglottic stenoses have not been previously described as clinical manifestations of FREM1-associated disorders.

Keywords: Congenital disorders; Genetics; Neonatal intensive care.

Publication types

Case Reports

MeSH terms

Aphonia* / diagnosis
Aphonia* / genetics
Female
Glottis
Humans
Infant, Newborn
Laryngoscopy*
Laryngostenosis* / diagnosis
Laryngostenosis* / genetics
Respiratory Distress Syndrome, Newborn* / diagnosis
Respiratory Distress Syndrome, Newborn* / etiology