Interpreting pendred syndrome as a foetal hydrops: Clinical and animal model evidence
Journal of Vestibular Research-Equilibrium & Orientation, 2021 BACKGROUND: Menière disease (MD) and SLC26A4 related deafness (Pendred syndrome (PS) or DFNB4) are two different inner ear disorders which present with fluctuating and progressive hearing loss, which could be a direct consequence of endolymphatic hydrops.
F. Simon, F. Denoyelle, M. Beraneck
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Delayed diagnosis of Pendred syndrome. [PDF]
BMJ Case Rep, 2016 We describe a case of a delayed diagnosis of Pendred syndrome. The patient had a history of hearing loss from childhood and presented to the endocrine clinic when aged 32 with an enlarging goitre. The characteristic Mondini deformity was noted on auditory canal MRI scan. Genetic tests confirmed the diagnosis.
Smith N, U-King-Im JM, Karalliedde J.
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Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 2023 Jinsei Jung +11 more
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Co-existence of Cohen Syndrome and Pendred Syndrome? Diagnostic Challenges Associated With Presence of Multiple Genomic Variants in the Newborn: A Case Report [PDF]
, 2020 BackgroundCohen syndrome is a multisystem autosomal recessive hereditary disease, which is caused by variants of the VPS13B gene. The clinical manifestations include characteristic facial features, microcephaly, trunk obesity and mental retardation ...
Guoxu Li +8 more
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Pendred Syndrome: Clinical Manifestations, Diagnostic Strategies, and Nursing Management
Saudi Journal of Medicine and Public HealthBackground: Pendred syndrome is a rare autosomal recessive disorder characterized by sensorineural hearing loss, thyroid abnormalities such as goiter, and inner ear malformations including an enlarged vestibular aqueduct and Mondini dysplasia.
Lamia Naiaf +12 more
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Goiter and Sensorineural Hearing Loss: Pendred Syndrome Should Be Suspected: A Case Report [PDF]
, 2020 BACKGROUND: Pendred syndrome (PS) is an autosomal recessive disorder, caused by biallelic mutations in the SLC26A4 gene which codes for the pendrin protein. It is characterized by sensorineural hearing loss associated with dyshormonogenic goiter.
Sana Mallouk +7 more
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Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand [PDF]
Scientific ReportsPrelingual sensorineural hearing loss (SNHL) represents about 80% of genetic SNHL, with at least 90 causative genes identified. In order to identify the genetic diagnosis of prelingual SNHL, we performed a prospective study by systematic history-taking ...
Tasyakorn Damrongchietanon +8 more
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Hypokalemia and metabolic alkalosis in an Egyptian boy with Pendred syndrome
, 2020 Pendred syndrome (PDS) is manifested by congenital sensorineural deafness in association with goiter due to defective organic binding of iodine in the thyroid gland.
Kotb Abbass Metwalley +2 more
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Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome. [PDF]
Case Rep EndocrinolWe described new forms of thyroglobulin gene (TG) mutation resulting in fetal goiter and congenital hypothyroidism in a pendred syndrome (PS) patient. Fetal hypothyroidism was diagnosed, based on ultrasonographic evidence of goiter alongside with fetal blood measurement of TSH (>100 mIU/L); levothyroxine intrauterine treatment was performed.
Calcaterra V +9 more
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