Imperato Pascal James, Imperato Gavin H
School of Public Health, Downstate Medical Center, State University of New York, MSC 43, 450 Clarkson Avenue, Brooklyn, NY, 11203, USA,
J Community Health. 2015 Feb;40(1):103-9. doi: 10.1007/s10900-014-9942-7.
Waardenburg syndrome (WS) is a genetic disorder of which there are four distinct types. These four types are differentiated by the physical defects which they produce. Presented here is the case of a 13-year-old boy with WS Type I who was observed and physically assessed in Mali, West Africa in 1969. His physical findings included a bright blue coloring to the irises of the eyes, profound sensorineural deafness, mutism, dystopia canthorum (lateral displacement of the inner canthi of the eyes), broad nasal root, bushy eyebrows, and scaphoid deformities of the supraorbital portions of the frontal bone. Because family members were not available for interviews or physical examinations, it was not possible to determine if this patient was suffering from a congenital form of the disorder or from a spontaneous mutation. Given the patient's then location in a remote rural area of Mali where electricity was absent, it was not possible to perform additional diagnostic tests. The patient described here is the first with WS in Mali, West Africa to have been medically observed and evaluated and later documented in the medical literature. A second case of the syndrome in Mali was described in the medical literature in 2011 in an 18-month-old infant who did not have sensorineural hearing loss, but who did have a bilateral cleft lip. An historical overview of WS is presented along with details concerning the characteristics of the four types of the disorder.
瓦登伯革氏综合征（WS）是一种遗传性疾病，有四种不同类型。这四种类型通过它们所产生的身体缺陷来区分。本文介绍了一名13岁I型WS男孩的病例，该男孩于1969年在西非马里接受了观察和身体评估。他的身体检查结果包括眼睛虹膜呈亮蓝色、严重的感音神经性耳聋、缄默症、内眦移位（眼角内侧向外移位）、宽鼻根、浓密的眉毛以及额骨眶上部分的舟状畸形。由于无法对家庭成员进行访谈或身体检查，所以无法确定该患者患的是先天性疾病还是自发突变。鉴于患者当时位于马里偏远的农村地区，那里没有电，因此无法进行额外的诊断测试。这里描述的患者是西非马里首例经医学观察和评估并随后记录在医学文献中的WS患者。2011年，医学文献中描述了马里该综合征的第二例病例，是一名18个月大的婴儿，他没有感音神经性听力损失，但患有双侧唇裂。本文介绍了WS的历史概况以及该疾病四种类型的特征细节。
