Congenital glottic stenosis as a clinical manifestation of

Humans Infant, Newborn Female Aphonia / genetics Laryngostenosis / diagnosis Respiratory Distress Syndrome, Newborn / etiology Laryngoscopy Glottis
Congenital disorders Genetics Neonatal intensive care

Journal

BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291

Informations de publication

Date de publication:
06 May 2024
Historique:
medline: 9 5 2024
pubmed: 9 5 2024
entrez: 8 5 2024
Statut: epublish

Résumé

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

Identifiants

DOI: 10.1136/bcr-2023-257133 PMID: 38719265
pubmed: 38719265
pii: 17/5/e257133
doi: 10.1136/bcr-2023-257133
pii:
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Kayla Dahlquist (K)

Pediatrics, Walter Reed National Military Medical Center, Bethesda, Maryland, USA kaylasdahlquist@gmail.com.

Taylor Meyers (T)

Pediatrics, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.

John Paul Schacht (JP)

Pediatrics, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.
Genetics, Pediatrics, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.

Rebecca Hicks (R)

Genetics, Pediatrics, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Congenital glottic stenosis as a clinical...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Congenital glottic stenosis as a clinical...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Troubles de la voix › Aphonie › Congenital glottic stenosis as a clinical...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations de l'appareil respiratoire › Laryngosténose › Congenital glottic stenosis as a clinical...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies néonatales › Maladies du prématuré › Syndrome de détresse respiratoire du nouveau-né › Congenital glottic stenosis as a clinical...
questionsmedicales.fr › Procédures de chirurgie opératoire › Procédures de chirurgie oto-rhino-laryngologique › Laryngoscopie › Congenital glottic stenosis as a clinical...
questionsmedicales.fr › Appareil respiratoire › Larynx › Glotte › Congenital glottic stenosis as a clinical...