Waardenburg syndrome type I- a rare case report

G. Singh, Kunal Ahya, D. Shrikhande, S. Patil, A. Desai, Niranjan Bommisetti Kurukuti, S. Yadav, R. Girdhar
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Abstract

Waardenburg syndrome (WS) is an inherited autosomal dominant disorder characterized by varying degrees of hearing loss and pigmentary anomalies affecting the eye, hair, skin. It is a rare syndrome affecting about 1 in 42,000 individuals. We herein report a case of WS type I in an 8 day old neonate, which to the best knowledge of the authors is the youngest reported case in literature.
Waardenburg综合征I型1例报道
Waardenburg综合征(WS)是一种遗传性常染色体显性遗传病,以不同程度的听力丧失和影响眼睛、头发和皮肤的色素异常为特征。这是一种罕见的综合症,大约每42000人中就有1人患病。我们在此报告一例8天大的新生儿WS I型病例,据作者所知,这是文献中最年轻的病例。
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