摘要
Waardenburg综合征（Waardenburg Sydrom,WS）是一种罕见的累及眼、耳、皮肤、毛发、骨骼及消化道的常染色体遗传病,1951年由荷兰眼科遗传学家Waardenburg首次报道并以他的名字命名〔1〕。该综合征的主要表现为感音神经性耳聋及色素异常,后者包括虹膜异色、早白发、皮肤色素减退;
出处
《中国中医眼科杂志》
2009年第6期364-364,共1页
China Journal of Chinese Ophthalmology
参考文献3
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3Yokoyama S, Takeda K, Shibahara S. Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders[J]. J Biochem, 2006, 14 (4): 491-499.
同被引文献7
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1邸悦,阎启昌.五代9例同患小睑裂综合征[J].国际眼科杂志,2006,6(6):1332-1332. 被引量：1
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2Waardenburg PJ.A new syndrome combining developmental anomalies of the eyelids,eyebrowsand nose root with pigmentary defects of the iris and head hair and with congenital deafness.Am J Hum Genet 1951;3(3):195-253.
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3Krishtul A,Galadari I.Waardenburg syndrome:case report.Int J Dermatol 2003;42(8):651-652.
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4Karaca I,Turk E,Ortac R,et al.Waardenburg syndrome with extended aganglionosis:report of 3 new cases.J Pediatr Surg 2009;44(6):E9-13.
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5Ghosh SK,Bandyopadhyay D,Ghosh A,et al.Waardenburg syndrome:a report of three cases.Indian J Dermatol Venereol Leprol 2010;76(5):550-552.
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6Reynolds JE,Meyer JM,Landa B,et al.Analysis of variability of clininal manifestations in Waardenburg syndrome.Am J Med Genet 1995;57(4):540-547.
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7Mehta M,Sethi S,Pushker N,et al.Delayed presentation of children with waardenburg syndrome.J Pediatr Ophthalmol Strabismus 2010;47(6):382-383.
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6张成成,张立,叶应嘉,王静,孙代红.Waardenburg综合征Ⅱ型1例(英文)[J].国际眼科杂志,2012,12(9):1623-1625.
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7杨仕明.儿童耳聋的病因和治疗方法[J].人人健康,2014(10):60-60.
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