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Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome [PDF]
Molecular Genetics & Genomic MedicineBackground Waardenburg syndrome is a genetic disorder characterized by sensorineural hearing loss and abnormal pigmentation. This study aims to explore the pathogenic variant in a large Waardenburg syndrome family and provide a theoretical basis for ...
Fei Hou +5 more
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Pan Afr Med J, 2023 Waardenburg syndrome (WS) is named after the Dutch ophthalmologist Petrus Johannes Waardenburg, who first described the syndrome in 1947. Waardenburg syndrome type-2 (WS2) is an autosomal disorder. It is a heterogeneous disorder of neural crest cell development with distinct cutaneous manifestations.
Ramakrishnan IL, Taksande A.
europepmc +4 more sources
Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome [PDF]
Case Reports in Ophthalmology, 2023 Waardenburg syndrome was first described in 1951 by Dutch ophthalmologist Petrus Johannes Waardenburg (1886-1979). It is an auditory-pigmentary syndrome that results from a lack of melanocytes in the hair, skin, eyes, or stria vascularis of the cochlea ...
Yahya Al-Najmi +4 more
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Kerala Journal of Ophthalmology, 2018 Waardenburg syndrome is a rare genetic disorder with at least 1,400 cases has been reported in medical lecture.In waardenburg syndrome a patient presents with hypopigmented areas of skin,white forelock of hairs,difference in the colour of both iris and ...
Anubhav Chauhan, Shveta Chauhan
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The Pan African Medical Journal, 2013 Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression.
Abdelhalim Mahmoudi +5 more
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Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report [PDF]
Journal of Medical Case Reports, 2022 Background Waardenburg syndrome is an autosomal dominant disorder with varying degrees of sensorineural hearing loss as well as abnormal pigmentation in hair, skin, and iris.
Li Zhang, Yue Wan, Ningli Wang
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Delhi Journal of Ophthalmology, 2012 Waardenburg syndrome is a rare genetic disorder characterized by varying degree of deafness associated with pigmentary anomally and defects of neural crest cell derived structures.
Yuvika Bansal +4 more
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Waardenburg Syndrome Type 1 [PDF]
Indian Journal of Ophthalmology, 2022 Rakshit Agrawal, Shweta Walia
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Waardenburg syndrome: case report of a child and his family group in a Health Unity
Revista Médica de Minas Gerais, 2023 Objectives: The present study aims to describe the characteristics of patients with Waardenburg syndrome, explain the pathophysiology of the syndrome in question, reaffirm the importance of interprofessional care for patients and reinforce the ...
Laís Michelini Gabanella +3 more
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