瓦登伯革氏症候群

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{{Infobox Disease | Name = 瓦登伯革氏症候群 | Image = | Caption = | DiseasesDB = 14021 | DiseasesDB_mult= {{DiseasesDB2|33475}} | ICD10 = {{ICD10|E|70|3|e|70}} ([[ILDS]] E70.32) | ICD9 = {{ICD9|270.2}} | ICDO = | OMIM = | OMIM_mult = | MedlinePlus = 001428 | eMedicineSubj = ped | eMedicineTopic = 2422 | eMedicine_mult = {{eMedicine2|derm|690}} | MeshID = D014849 }} '''瓦登伯革氏症候群'''（{{lang-en|Waardenburg syndrome}}）是一种罕见的[[遗传性疾病]]，首次发现于1951年。<ref name=Waardenburg1951>{{cite journal | author = Waardenburg PJ | title = A New Syndrome Combining Developmental Anomalies of the Eyelids, Eyebrows and Noseroot with Pigmentary Anomalies of the Iris and Head Hair and with Congenital Deafness; ''Dystopia canthi medialis et punctorum lacrimalium lateroversa, Hyperplasia supercilii medialis et radicis nasi, Heterochromia iridum totalis sive partialis, Albinismus circumscriptus (leucismus, poliosis) et Surditas congenita (surdimutitas)'' | journal = Am. J. Hum. Genet. | volume = 3 | issue = 3 | pages = 195–253 | year = 1951 | month = September | pmid = 14902764 | pmc = 1716407 }}</ref>常见病征为不同程度的[[耳聋]]，两眼眼距较宽，[[鼻根]]宽阔，少年[[白发]]，及出现[[虹膜异色症]]，即两眼皆为蓝[[眼珠]]或两眼一蓝一正常。 ==参考文献== <references/> ==外部连结== *[http://ghr.nlm.nih.gov/condition=waardenburgsyndrome/show/OMIM 在线人类孟德尔遗传数据库] - 瓦登伯革氏症候群 *[http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ws1 瓦登伯革氏症候群1型] {{Amino acid metabolic pathology}} [[Category:氨基酸代谢紊乱]] [[Category:症候群]] [[Category:人名疾病]] [[Category:遗传病]] ==参考来源== *[http://zh.wikipedia.org/wiki/%E7%93%A6%E7%99%BB%E4%BC%AF%E9%9D%A9%E6%B0%8F%E7%97%87%E5%80%99%E7%BE%A4 维基百科-瓦登伯革氏症候群]

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