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

先天性声门狭窄是新生儿呼吸窘迫和失音的 FREM1 相关疾病的临床表现。

• 发表时间: 2024 May 6
• 来源期刊: BMJ Case Rep
• DOI: 10.1136/bcr-2023-257133
• PMID: 38719265
• 文章类型: Case Reports
• 作者列表: Dahlquist K,Meyers T,Schacht JP,Hicks R

关键词: Congenital disorders; Genetics; Neonatal intensive care

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

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.

摘要

通过阴道分娩在38周零2天出生的女婴在出生后不久就因呼吸窘迫而被送往新生儿重症监护病房。检查时注意到失音，患者接受了直接喉镜检查，被诊断为声门前网和声门下狭窄。患者接受了包括全外显子组测序在内的遗传检查，从而诊断出FREM1相关疾病。先天性声门网和声门下狭窄以前没有被描述为FREM1相关疾病的临床表现。