| Literature DB >> 26429191 |
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.Entities:
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Year: 2015 PMID: 26429191
Source DB: PubMed Journal: Rom J Morphol Embryol ISSN: 1220-0522 Impact factor: 1.033