瓦登伯革氏症候群

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A+醫學百科 >> 瓦登伯革氏症候群

瓦登伯革氏症候群（英語：Waardenburg syndrome）是一種罕見的遺傳性疾病，首次發現於1951年。^[1]常見病徵為不同程度的耳聾，兩眼眼距較寬，鼻根寬闊，少年白髮，及出現虹膜異色症，即兩眼皆為藍眼珠或兩眼一藍一正常。

參考文獻

↑ Waardenburg PJ. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC1716407/ 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)]. Am. J. Hum. Genet.. September 1951, 3 (3): 195–253. PMID 14902764. PMC 1716407.