title: Waardenburg syndrome type 2: an orthodontic perspective.
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.
authors.affiliation: Department of Pediatric Dentistry, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania; raluca.suhani@gmail.com, raluca.suhani@umfcluj.ro.
authors.forename: Raluca Diana
authors.initials: RD
authors.lastname: Şuhani
authors.forename: Mihai Flaviu
authors.initials: MF
authors.lastname: Şuhani
authors.forename: Alexandrina
authors.initials: A
authors.lastname: Muntean
authors.forename: Michaela Florica
authors.initials: MF
authors.lastname: Mesaroş
authors.forename: Mîndra Eugenia
authors.initials: ME
authors.lastname: Badea
mesh_terms: D000293:Adolescent; D002465:Cell Movement; D019929:Cochlear Implantation; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D003638:Deafness / Q000150:complications; D019066:Facies; D006197:Hair; D006312:Hearing Loss, Bilateral / Q000150:complications; D006801:Humans; D008297:Male; D008310:Malocclusion / Q000175:diagnosis* / Q000628:therapy*; D009154:Mutation; D009432:Neural Crest / Q000473:pathology; D009970:Orthodontics / Q000379:methods*; D010641:Phenotype; D010858:Pigmentation; D011379:Prognosis; D014849:Waardenburg Syndrome / Q000175:diagnosis* / Q000628:therapy*
chemical_list: D017630:Connexins; D000072259:Connexin 26