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Waardenburg syndrome associated with meningomyelocele

✍ Scribed by Carezani-Gavin, Monica ;Clarren, Sterling K. ;Steege, Timothy


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
158 KB
Volume
42
Category
Article
ISSN
0148-7299

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Waardenburg syndrome (WS) types I, II, and III (McKusick #14882, #19351, and #19350) are related autosomal dominant disorders characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other developmental defects. Disease causing PAX3 mutations have been identified

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BACKGROUND: Neural tube defects (NTDs) occur in as many as 0.5-2 per 1000 live births in the United 'States. One of the most common and severe neural tube defects is meningomyelocele (MM) resulting from failed closure of the caudal end of the neural tube. MM has been induced by retinoic acid teratog

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Waardenburg syndrome [WS] is a combination of deafness and pigmentary disturbances, inherited as an autosomal-dominant condition. The full syndrome comprises congenital nonprogressive bilateral sensorineural deafness, heterochromia irides, white forelock, and patches of white, depigmented skin. All