Literature DB >> 20826997

Waardenburg syndrome: a report of three cases.

Sudip Kumar Ghosh1, Debabrata Bandyopadhyay, Arghyaprasun Ghosh, Surajit Kumar Biswas, Rajesh Kumar Mandal.   

Abstract

Waardenburg syndrome (WS) is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development with distinct cutaneous manifestations. Based on the clinical presentations, four subtypes of the disease are recognized. A careful clinical evaluation is required to differentiate various types of WS and other associated auditory-pigmentary syndromes. We describe a case series of WS to highlight the wide spectrum of manifestations of the syndrome including a rare association.

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Year:  2010        PMID: 20826997     DOI: 10.4103/0378-6323.69089

Source DB:  PubMed          Journal:  Indian J Dermatol Venereol Leprol        ISSN: 0378-6323            Impact factor:   2.545


  4 in total

1.  Waardenburg syndrome: A rare case with bilateral congenital cataract: An unusual entity.

Authors:  Nitin Vichare; N Bhargava
Journal:  Med J Armed Forces India       Date:  2012-12-01

2.  Anesthetic management of Shah-Waardenburg syndrome: Experience of two cases and review of literature.

Authors:  Uday S Ambi; E S Adarsh; Ramesh Hatti; Vijaymahantesh Samalad
Journal:  Saudi J Anaesth       Date:  2012-04

3.  Phenotypic analysis of Myo10 knockout (Myo10tm2/tm2) mice lacking full-length (motorized) but not brain-specific headless myosin X.

Authors:  Anne C Bachg; Markus Horsthemke; Boris V Skryabin; Tim Klasen; Nina Nagelmann; Cornelius Faber; Emma Woodham; Laura M Machesky; Sandra Bachg; Richard Stange; Hyun-Woo Jeong; Ralf H Adams; Martin Bähler; Peter J Hanley
Journal:  Sci Rep       Date:  2019-01-24       Impact factor: 4.379

4.  A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.

Authors:  Filiz Hazan; A Taylan Ozturk; Hamit Adibelli; Nurettin Unal; Ajlan Tukun
Journal:  Mol Vis       Date:  2013-01-29       Impact factor: 2.367

  4 in total

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