Eigelshoven Sibylle, Kameda Gitta, Kortüm Anne-Katrin, Hübsch Simone, Angerstein Wolfgang, Singh Preeti, Vöhringer Renate, Goecke Timm, Mayatepek Ertan, Ruzicka Thomas, Wildhardt Gabriele, Meissner Thomas, Kruse Roland
Department of Dermatology, Heinrich-Heine-University, Düsseldorf, Germany.
Pediatr Dermatol. 2009 Nov-Dec;26(6):759-61. doi: 10.1111/j.1525-1470.2009.01033.x.
We report a 3-year-old girl with autosomal dominant inherited Waardenburg syndrome type I showing circumscribed hypopigmentation of the skin, heterochromia iridis, sensorineural deafness, and dental aberrations. Clinical diagnosis was confirmed by the identification of an underlying missense mutation (C811T) in the PAX3 gene. Early diagnosis of Waardenburg syndrome among children with pigment anomalies enables a successful interdisciplinary medical care.
我们报告了一名3岁女童，患有常染色体显性遗传的I型瓦登伯格综合征，表现为局限性皮肤色素减退、虹膜异色、感音神经性耳聋和牙齿异常。通过鉴定PAX3基因中的一个潜在错义突变（C811T）证实了临床诊断。对有色素异常的儿童进行瓦登伯格综合征的早期诊断，能够实现成功的跨学科医疗护理。
