Waardenburg syndrome

Küçük Resim Yok

Tarih

2005

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Erişim Hakkı

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.

Açıklama

Anahtar Kelimeler

Waardenburg Syndrome

Kaynak

SENDROM

WoS Q Değeri

Scopus Q Değeri

N/A

Cilt

17

Sayı

10

Künye