Hearing Outcomes in Stickler Syndrome: Variation Due to
Arthritis
Child
Collagen Type II
/ genetics
Collagen Type XI
/ genetics
Connective Tissue Diseases
/ diagnosis
Craniofacial Abnormalities
Eye Diseases, Hereditary
Hearing
Hearing Loss
/ genetics
Hearing Loss, Sensorineural
Humans
Mutation
Osteochondrodysplasias
Retinal Detachment
Retrospective Studies
COL11A1
COL2A1
Stickler syndrome
conductive hearing loss
congenital hearing loss
hearing loss
sensorineural hearing loss
Journal
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
ISSN: 1545-1569
Titre abrégé: Cleft Palate Craniofac J
Pays: United States
ID NLM: 9102566
Informations de publication
Date de publication:
08 2022
08 2022
Historique:
pubmed:
10
7
2021
medline:
14
7
2022
entrez:
9
7
2021
Statut:
ppublish
Résumé
Stickler syndrome (SS) is a heterogeneous inherited connective tissue disorder, often due to a mutation in A retrospective chart review of pediatric patients with a confirmed diagnosis of SS between January 2003 and December 2018 at a tertiary pediatric hospital was performed. Patients were excluded if they did not have genetic evaluation, craniofacial/ear, nose, and throat evaluation, and/or audiologic testing. Charts were reviewed for the following information: age, race, sex, SS diagnosis, genetic variant of SS, and audiological testing data. There were 29 confirmed patients with SS who met criteria, 16 with type I ( Results suggest that patients with type II SS are more likely to have congenital hearing loss than type I. Data also suggest that the
Identifiants
pubmed: 34238052
doi: 10.1177/10556656211029519
doi:
Substances chimiques
COL11A1 protein, human
0
COL2A1 protein, human
0
Collagen Type II
0
Collagen Type XI
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM