Literature DB >> 26429191

Waardenburg syndrome type 2: an orthodontic perspective.

Raluca Diana Şuhani1, Mihai Flaviu Şuhani, Alexandrina Muntean, Michaela Florica Mesaroş, Mîndra Eugenia Badea.   

Abstract

Waardenburg syndrome is a rare form of neurocristopathy. It is a disorder in the development of neural crest cells, caused by an altered cellular migration during the embryonic phase. That alteration causes an association of different abnormalities such as pigmentary disturbances of the hair, iris, skin, stria vascularis of the cochlea, dystopia canthorum and sensorineural hearing loss. We report a case of a 14-year-old Romanian male, with a family history of Waardenburg syndrome (mother) and Usher syndrome (father - congenitally sensorineural hearing loss and retinal degeneration). The case particularities are: the correlation between malocclusion and Waardenburg syndrome due to hypoplastic alae nasi and also factors that produced hearing loss, which could be Waardenburg syndrome, Usher syndrome or the presence of the connexin 26 (W24X) gene mutation.

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Year:  2015        PMID: 26429191

Source DB:  PubMed          Journal:  Rom J Morphol Embryol        ISSN: 1220-0522            Impact factor:   1.033


  2 in total

1.  A rare case of seven siblings with Waardenburg syndrome: a case report.

Authors:  Luma Haj Kassem; Mohamed Fares Ahmado; Majd Sheikh Alganameh
Journal:  J Med Case Rep       Date:  2018-07-05

2.  Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II.

Authors:  Maan Abdullah Albarry; Ahdab Qasem Alreheli; Alia M Albalawi; Sulman Basit
Journal:  Saudi J Ophthalmol       Date:  2019-09-18
  2 in total

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