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Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss (HL), which accounts for approximately 2–5% of all patients with...
Dec 9, 2020 · Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis. Waardenburg syndrome (WS) is a prevalent hearing loss syndrome, concomitant with focal skin pigmentation abnormalities, blue iris, and other abnormalities of neural crest-derived cells, including Hirschsprung’s disease.
Waardenburg syndrome (WS) is characterized by hearing loss and pigmentary abnormalities of the eyes, hair, and skin. The condition is genetically heterogeneous, and is classified into four clinical types differentiated by the presence of dystopia canthorum in type 1 and its absence in type 2.
Mar 4, 2023 · Waardenburg syndrome (WS) is an autosomal dominant multigene disorder known to affect pigmented cells and cause hearing loss. Mutations involving Pax3 deletion in mouse models are linked with abnormal semilunar valve morphology. Patients with underlying structural valvular abnormality are at an increased risk of infective endocarditis. Case.
Sep 29, 2021 · Waardenburg syndrome is a genetic disorder whose primary phenotypic features include a white forelock, vibrant blue eyes or heterochromia due to lack of pigmentation of the iris, distinctive facial abnormalities (laterally displaced inner canthi and a wide nasal bridge), sensorineural hearing loss, and upper extremity malformations . The ...
Jul 1, 2017 · Waardenburg syndrome (WS), coined by Dutch ophthalmologist Petrus Johannes Waardenburg, is a neurocristopathy composed of hearing impairment (HI) and pigmentary abnormalities of eyes, skin and hair ( 1 ). The syndrome is clinically and genetically heterogeneous, and follows an autosomal dominant mode of inheritance.
Dec 21, 2023 · Waardenburg syndrome (WS) is characterized by hearing loss and pigmentary abnormalities of the eyes, hair, and skin. The condition is genetically heterogeneous, and is classified into four clinical types differentiated by the presence of dystopia canthorum in type 1 and its absence in type 2.
