2001
DOI: 10.1046/j.0926-9959.2001.00286.x
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Waardenburg syndrome

Abstract: Waardenburg syndrome (WS) is caused by autosomal dominant mutations, and is characterized by pigmentary anomalies and various defects of neural crest derived tissues. We report a very interesting case of type 1 WS (WS 1) in an adult who presented all the symptoms characteristic of this syndrome. One particularly important clinical feature of WS is congenital hearing loss, which may severely handicap a child. A careful clinical description is useful to differentiate between various types of WS and other associa… Show more

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Cited by 11 publications
(4 citation statements)
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“…Waardenburg syndrome (WS) is an inherited disease with an estimated incidence of 1: 42,000 births. 1 , 2 It has 4 clinical variants, which share varying degrees of sensorineural hearing loss and changes in pigmentation.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Waardenburg syndrome (WS) is an inherited disease with an estimated incidence of 1: 42,000 births. 1 , 2 It has 4 clinical variants, which share varying degrees of sensorineural hearing loss and changes in pigmentation.…”
Section: Discussionmentioning
confidence: 99%
“…It occurs in approximately 20% of patients. 7 About 2% of all cases of congenital deafness are due to the SW. 1 . 4 …”
Section: Discussionmentioning
confidence: 99%
“…The nerve cell migration defect can be the reason for the deafness(1). WS Type I and III are attributed to a defect in the PAX 3 gene and Type II to a defect in the MITF (microphtalmia associated transcription factor) (5, 10, 11). Type IV is similiar to Type III, and its inheritance is autosomal recessive.…”
Section: Minor Criteriamentioning
confidence: 99%
“…Types I, II, and III are autosomally dominant while Type IV is autosomally recessive (1–4). The incidence of WS in the general population is around 1 in 42,000 and is responsible for 1–2% of all congenital deafness (5). Several case reports of Waardenburg syndrome have been published in different literatures (5, 6).…”
Section: To the Editormentioning
confidence: 99%