Waardenburg syndrome [Waardenburg sendromu]
Küçük Resim Yok
Tarih
2005
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info:eu-repo/semantics/closedAccess
Özet
Waardenburg Syndrome (WS) is an autosomal dominant syndrome characterized with hearing loss and pigmentation disorders. Its frequency has been reported to be 1/20.000-40.000. Among its clinical features dystopia canthorum, high broad nasal root, synorphrys, heterochromia iridium or isochromic blue irides of both eyes, white forelock, pigmentary disorders and congenital sensorineural hearing loss can be enumerated. This syndrome is clinically and genetically heterogenous and classified into four types, WS type 1 and 3 are differentiated from type 2 and 4 by the presence of dystopia canthorum. WS type 3 also has also similar characteristics in addition to extremity abnormalities. WS type 4 is also associated with Hirschsprung Syndrome. WS type 4 also discriminates from the other 3 types by its autosomal recessive characteristics.
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SENDROM
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Scopus Q Değeri
N/A
Cilt
17
Sayı
10
