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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
Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass. [PDF]
BMC Dev Biol, 2009 BACKGROUND: The H6 homeobox genes Hmx1, Hmx2, and Hmx3 (also known as Nkx5-3; Nkx5-2 and Nkx5-1, respectively), compose a family within the NKL subclass of the ANTP class of homeobox genes.
Munroe RJ +8 more
europepmc +2 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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Fabrication of feeding plate to an infant with Pierre-Robin syndrome: a case report [PDF]
, 2021 Cleft lip and palate is a congenital deformity associated with maxillary sagittal and transverse discrepancies. Feeding is an immediate concern in children born with a cleft as it delays their normal growth.
Challagondla, Bhargavi +2 more
core +2 more sources