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Waardenburg综合征

A case of Waardenburg syndrome
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摘要 报告1例Waardenburg综合征。患儿男,12岁。出生时即有前额白发,双眼虹膜异色、唇裂伴右耳感觉神经传导性耳聋。无阳性家族史。诊断:Waardenburg综合征Ⅱ型。 A case of Waardenburg syndrome is reported. A 12-year-old boy presented with white forelock, heteroehromia iridis, sensorineural deafness of the right ear and cleft lip when he was born. His family history was unremarkable. The diagnosis of Waardenburg syndrome was made.
作者 谭琦 甘立强 肖异珠 倪思利 杨欢 王华
机构地区 重庆医科大学附属儿童医院皮肤科
出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2014年第8期479-480,共2页 Journal of Clinical Dermatology
关键词 WAARDENBURG综合征 Waardenburg syndrome
分类号 R758.5 [医药卫生—皮肤病学与性病学]
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参考文献10

  • 1Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmen- tary defects of the iris and head hair and with congenital deaf- ness[J]. Am J Hum Genet, 1951, 3(3): 195-253.
  • 2Wang J, Li S, Xiao X, et al. PAX3 mutations and clinical char- acteristics in Chinese patients with Waardenburg syndrome type l[J]. Mol Vis, 2010, 22(16): 1146-1153.
  • 3Nasser LS, Paranaiba LM, Frota AC, et al. Waardenburg syn- drome-ophthalmic findings and criteria for diagnosis: case re- ports[J]. Arq Bras Oftalmol, 2012, 75(5): 352-355.
  • 4Farrer LA, Gnmdfast KM, Amos J, et al. Waardenburg syndrome (WS) type 1 is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS Consor- tium[J]. J Genet Hum, 1992, 50(5): 902-913.
  • 5Bist J, Adhikari P, Sharma AK. Waardenburg syndrome [J]. Clin Exp Optom, 2011, 94(3): 240-242.
  • 6Zhang H, Luo H, Chen H, et al. Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2[J]. FEBS Lett, 2012, 586(23): 4126-4131.
  • 7Jung HJ, Jin SA, Choi SJ, et al. A de novo SOXIO mutation in a patient with Waardenburg syndrome type IV [J]. J Am Acad Dermatol, 2013, 68(6): e177-178.
  • 8Nayak CS; Isaaeson G. Worldwide distribution of Waardenburg syndrome[J]. Ann Otol, Rhinol Laryngol, 2003, 112, (9): 817-820.
  • 9Dourmishev AL, Dourmishev LA, Schwartz RA, et al. Waarden- burg syndrome[J]. Int J Dermatol, 1999, 38(9): 656-663.
  • 10WKumar S, Rao K.Waardenburg syndrome: A rare genetic disor- der, a report of two cases[J]. Indian J Hum Genet, 2012, 18(2): 254-255.
临床皮肤科杂志
2014年 第8期

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