Kleinwaardenburg syndrome refers to a disorder that also includes upper limb abnormalities. Waardenburg syndrome ws is a rare clinical entity, with the worldwide incidence of 1 in 40,000. Anaesthesia management in a patient with waardenburg. These basic features constitute type 2 of the condition. A case of waardenburgshah syndrome type 4 presenting with. Es originado por mutaciones en multiples genes como pax3. I almost always have eyes that appear widely spaced and people with type ii do not. Ws1 requires two major or one major and two minor criteria for the diagnosis. Type 1 ws 1 is characterised by congenital sensorineural hearing. Waardenburg syndrome is a rare genetic disorder with an incidence of 1 in 40. A mutacao deste tipo localizese no braco longo do cromossomo 2. Waardenburg syndrome type 2 is an auditorypigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes. Waardenburg syndrome type 2 europe pmc article europe pmc.
Fidel castro perez 1, jose guillermo sanabria negrin 2, reinaldo menendez garcia 3. Waardenburg syndrome is a group of genetic conditions that can cause hearing. Waardenburg syndrome is a rare genetic condition 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. Issuu is a digital publishing platform that makes it simple to publish magazines, catalogs, newspapers, books, and more online. The underlying cause may be defective development of the neural crest neurocristopathy. The patient also demonstrated complete mutism and lack of response to commands. Waardenburg syndrome ws is a rare genetic disorder. Las personas con tipo 3 pueden tener brazos o hombros debiles o malformaciones en sus articulaciones. Type iv also known as waardenburgshah syndrome has signs and symptoms of. Waardenburg syndrome is a rare autosomal dominant disease that. It is caused by mutations in multiple genes such as pax3, mitf. Waardenburgs syndrome may be closely related to piebaldism. A motilidade ocular extrinseca encontravase normal.
Ressaltase a importancia do oftalmologista no auxilio do diagnostico deste raro quadro sistemico. Waardenburg s syndrome klein waardenburg syndrome kleins syndrome waardenburg klein syndrome. Jan 09, 2017 issuu is a digital publishing platform that makes it simple to publish magazines, catalogs, newspapers, books, and more online. 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.
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