Case of Waardenburg Shah syndrome in a family with review of literature
Journal of Otology, 2018 Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg Shah
Setty.L.N. Chandra Mohan
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Waardenburg syndrome type I: dental phenotypes and genetic analysis of an extended family [PDF]
, 2016 Background: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations ...
Aquino, Sibele Nascimento de +8 more
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PAX3 gene deletion detected by microarray analysis in a girl with hearing loss [PDF]
, 2014 Deletions of the PAX3 gene have been rarely reported in the literature. Mutations of this gene are a common cause of Waardenburg syndrome type 1 and 3.
Malgorzata Drozniewska, Olga Haus
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Pigment Intensity in Dogs is Associated with a Copy Number Variant Upstream of KITLG. [PDF]
, 2020 Dogs exhibit a wide variety of coat color types, and many genes have been identified that control pigment production, appearance, and distribution. Some breeds, such as the Nova Scotia Duck Tolling Retriever (NSDTR), exhibit variation in pheomelanin ...
Affolter, Verena +6 more
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Indian Journal of Dermatology, Venereology and Leprology, 2006 Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively ...
Sunita, Tagra +3 more
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Prediction of gene–phenotype associations in humans, mice, and plants using phenologs [PDF]
, 2013 All authors are with the Center for Systems and Synthetic Biology, Institute for Cellular and Molecular Biology, The University of Texas at Austin, Austin, TX 78712, USA.
Laurent, Jon M. +4 more
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Anesthetic management of Shah-Waardenburg syndrome: Experience of two cases and review of literature
Saudi Journal of Anaesthesia, 2012 Waardenburg syndrome (WS) is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development. Literature regarding the anesthetic management of these cases is limited.
Uday S Ambi +3 more
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A rare case of seven siblings with Waardenburg syndrome: a case report
Journal of Medical Case Reports, 2018 Background Waardenburg syndrome is a group of rare genetic conditions. It is determined by the absence of melanocytes from the eyes, hair, and skin. There are four types of Waardenburg syndrome with specific criteria to diagnosis the different types. The
Luma Haj Kassem +2 more
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Development of the stria vascularis and potassium regulation in the human fetal cochlea : insights into hereditary sensorineural hearing loss [PDF]
, 2015 Sensorineural hearing loss (SNHL) is one of the most common congenital disorders in humans, afflicting one in every thousand newborns. The majority is of heritable origin and can be divided in syndromic and nonsyndromic forms. Knowledge of the expression
Chuva de Sousa Lopes, Susana Marina +5 more
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Audiological outcomes of cochlear implantation in Waardenburg Syndrome
International Archives of Otorhinolaryngology, 2013 Summary Introduction: The most relevant clinical symptom in Waardenburg syndrome is profound bilateral sensorioneural hearing loss. Aim: To characterize and describe hearing outcomes after cochlear implantation in patients with ...
Ana Tereza de Matos Magalhães +5 more
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