瓦登伯革氏症候群

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A+医学百科 >> 瓦登伯革氏症候群

瓦登伯革氏症候群（英语：Waardenburg syndrome）是一种罕见的遗传性疾病，首次发现于1951年。^[1]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

↑ 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.