Waardenburg syndrome

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

Retinal degeneration

A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.


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PMID (PMCID)
26429191
MALE
Waardenburg syndrome type 2: an orthodontic perspective.
uhani RD, uhani MF, Muntean A, Mesaros MF, Badea ME.
Rom J Morphol Embryol. 2015;56(2 Suppl):879-83.
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).