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Waardenburg综合征Ⅱ型1例(英文)

Waardenburg syndrome Ⅱ in China: a case report
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摘要 Waardenburg综合征(WS)是一种罕见的常染色体显性遗传病,其主要临床特点包括色素分布异常以及先天性耳聋。WS共分为四型,临床上需同其他疾病仔细鉴别。 Waardenburg syndrome （WS） is an uncommon autosomally inherited and genetically heterogeneous disorder. The major features includes pigmentary disturbances and congenital deafness. Four subtypes of WS are recognized according to the clinical finding.A careful clinical description is needed to differentiate different types of WS and other associated diseases. 
作者 张成成 张立 叶应嘉 王静 孙代红
机构地区 汉口爱尔眼科医院
出处 《国际眼科杂志》 CAS 2012年第9期1623-1625,共3页 International Eye Science
关键词 WAARDENBURG综合征 虹膜异色 耳聋 Waardenburg syndrome heterochromia iris deafness
分类号 R771.3 [医药卫生—眼科]
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参考文献9

  • 1Ghosh SK, Bandyopadhyay D, Ghosh A, Biswas SK, Mandal RK. Waardenburg syndrome: a report of three cases. Indian J Dermatol Venereol Leprol 2010 ;76 ( 5 ) :550-552.
  • 2Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids , eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum C, enet 1951 ; 3 ( 3 ) : 195-253.
  • 3Aguilar Caso SI, Ortiz Nieva G. Waardenburg syndrome in four Mexican patients. J Pediatr Ophthalmol Strabismu, 2009 ; 46 ( 2 ) : 120 -122.
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  • 5Pingauh V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome. Hum Murat 2010 ; 31 (4) : 391-406.
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  • 7Liu XZ , Newton VE, Read AP. Waardenburg syndrome type II: phenotypic finding and diagnostic criteria. Am J Med Genet 1995 ;55( 1 ) : 95-100 2007;81 (6) : 1169-1185.
  • 8Matsushima Y, Shinkai Y, Kobayashi Y, Sakamoto M, Kunieda T,Tachibana M. A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene. Mamm Genome 2002 ; 13 ( 1 ) :30-35.
  • 9Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitaeh T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V. Deletions at the SOX1 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet Epub 2007 Oct 22.
国际眼科杂志
2012年 第9期

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