Sindrome de waardenburg pdf download

Apr 18, 2011 waardenburg syndrome type 4, also known as waardenburg shah syndrome, is a genetic condition that can cause hearing loss. Waardenburg syndrome type 4, also known as waardenburgshah syndrome, is a genetic condition that can cause hearing loss. Waardenburg syndrome first described by dutch ophthalmologist petrus johannes waardenburg in 1951, waardenburg syndrome ws is caused by autosomal dominant genetic mutations that affect one out of 42,000 to 50,000 individuals. Waardenburg syndrome haley bolland and kayla howe period 8 march 1, 2010 2. If you have problems viewing pdf files, download the latest version of adobe reader. Haley bolland and kayla howe period 8 march 1, 2010 2.

Waardenburg syndrome type 4 genetic and rare diseases. Waardenburg syndrome is a term used to describe a collection of rare genetic conditions. The clinical and genetic aspects of waardenburgs syndrome were studied in the largest affected family that is known to. This was concluded from the results of vestibular examination by means of electronystagmography of 25 subjects with waardenburgs syndrome from five families in the netherlands. Waardenburgs syndrome autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin andor the iris of both eyes. For language access assistance, contact the ncats public information officer. Feb 11, 2016 if you have problems viewing pdf files, download the latest version of adobe reader. Waardenburg syndrome is a term used to describe a collection of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes or one blue eye and one brown eye, a white forelock or patches of light skin. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Waardenburg syndrome is an inherited disorder usually the people have hearing loss and changes in skin and hair color. Clinical and morphological features of waardenburg syndrome type ii. Pdf a revision of the recent literature about waardenburg disease.