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Shah-Waardenburg syndrome [PDF]
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
doaj +5 more sources
Anterior Ethmoidal Artery Emerging Anterior to Bulla Ethmoidalis: An Abnormal Anatomical Variation in Waardenburg's Syndrome [PDF]
Allergy & Rhinology, 2014 In endoscopic sinus surgery, the anterior ethmoidal artery (AEA) is usually identified as it traverses obliquely across the fovea ethmoidalis, posterior to the bulla ethmoidalis and anterior to or within the ground lamella's attachment to the skull base.
Danny K. C. Wong M.B.Ch.B. +3 more
doaj +2 more sources
J Med Genet, 1997 Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene ...
Read AP, Newton VE.
europepmc +4 more sources
Genome-wide siRNA-based functional genomics of pigmentation identifies novel genes and pathways that impact melanogenesis in human cells. [PDF]
PLoS Genetics, 2008 Melanin protects the skin and eyes from the harmful effects of UV irradiation, protects neural cells from toxic insults, and is required for sound conduction in the inner ear.
Anand K Ganesan +11 more
doaj +2 more sources
Pan African Medical Journal, 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.
Iyer Lavanya Ramakrishnan, Amar Taksande
openaire +3 more sources
Clinical and Experimental Optometry, 2011 Waardenburg syndrome (WS), first described by Dutch ophthalmologist PJ Waardenburg, is a congenital developmental disorder characterised by congenital hearing loss and abnormal pigmentation of the eye, hair and skin.1-10 This condition is divided into four types: •Type I WS (WS1) consists of dystopia canthorum and broad nasal root.
Bist, Jeewanand +2 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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Indian Journal of Otolaryngology and Head and Neck Surgery, 2004 We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes).
Manish, Mehta +2 more
openaire +3 more sources