[HTML][HTML] Updated clinical practice recommendations for managing children with 22q11. 2 deletion syndrome

S Oskarsdottir, E Boot, TB Crowley, JCY Loo… - Genetics in …, 2023 - Elsevier
This review aimed to update the clinical practice guidelines for managing children and
adolescents with 22q11. 2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society, the …

Syndromic hearing loss in children

M Lewis, CD Robson, DA Felice - Neuroimaging …, 2023 - neuroimaging.theclinics.com
The estimated prevalence of permanent bilateral hearing loss (HL) in children is 1.33 per
1000 live births, increasing to 3.5 per 1000 adolescents, presumably reflecting additional …

Temporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide

F D'Arco, A Youssef, E Ioannidou, S Bisdas… - European Journal of …, 2020 - Elsevier
Purpose To describe in detail the temporal bone and brain findings in both common and
rare syndromic causes of hearing loss, with the purpose of broadening among radiologists …

Conductive hearing loss in children

CD Robson - Neuroimaging Clinics, 2023 - neuroimaging.theclinics.com
Pediatric conductive hearing loss (CHL) is prevalent and usually results from abnormal
mechanical transmission of sound from the external and middle ear to the oval window and …

Hearing Loss in Children with 22q11. 2 Deletion Syndrome

J Arganbright, TB Crowley, M Tracy… - The …, 2024 - Wiley Online Library
Objectives Hearing loss is considered common in children with 22q11. 2 deletion syndrome
(22q11. 2DS), with a few prior studies reporting a 32%–78% prevalence; mild–moderate …

Absent stapedial tendon: imaging features of an underrecognized entity: clinical neuroradiology

BJ Burkett, MP Oien, JC Benson, AM Nassiri… - Clinical …, 2023 - Springer
Purpose Congenital absence of the stapedial tendon is a rare entity with characteristic
imaging findings, which can go unrecognized due the scarcity of the diagnosis and limited …

Association of ear anomalies and hearing loss among children with 22q11. 2 deletion syndrome

SS Wu, C Mahomva, T Sawaf… - … –Head and Neck …, 2023 - Wiley Online Library
Objective To identify inner and middle ear anomalies in children with 22q11. 2 deletion
syndrome (22q11DS) and determine associations with hearing thresholds. Study Design …

Case Report: Ménière's Disease-Like Symptoms in 22q11. 2 Deletion Syndrome

KD Choi, JY Kim, SY Choi, EH Oh, HM Lee… - Frontiers in …, 2021 - frontiersin.org
The 22q11. 2 deletion syndrome (22q11. 2DS), caused by a microdeletion on the long arm
of chromosome 22, is characterized by congenital heart disease, hypoparathyroidism …

Malformations of the lateral semicircular canal correlated with data from the audiogram

A Venkatasamy, DL Foll, C Eyermann, H Vuong… - European Archives of …, 2019 - Springer
Objectives Lateral semicircular canal (LSCC) malformations are one of the most common
inner ear malformations. The purpose of this study is to analyze the prevalence and type of …

The ossicles in pediatric conductive hearing loss

AM Foust, DS Poe, CD Robson - Neurographics, 2020 - ingentaconnect.com
Congenital ossicular anomalies are important, often-missed causes of pediatric conductive
hearing loss that may occur in isolation or as part of a syndrome. Accurately identifying and …