Veres Gábor, Kárpáti Sarolta, Karászi Viktória, Czenthe Zalán, Horváth Attila
Semmelweis Egyetem, Altalános Orvostudományi Kar, Bor és Nemikŕtani Klinika, Budapest.
Orv Hetil. 2004 Jul 18;145(29):1523-6.
The authors discuss the case of a patient suffering from an auditory-pigmentary syndrome. The patient in whom the Waardenburg syndrome had never been diagnosed before was observed because of another disease, which quite frequently causes hearing loss in childhood. In a short review of the literature, the authors describe the other components of the syndrome and the recent information about the genetic background of the disease.
作者们讨论了一位患有听觉色素沉着综合征患者的病例。该患者之前从未被诊断出患有瓦登伯革氏综合征,此次因另一种常在儿童期导致听力丧失的疾病而接受观察。在对文献的简短回顾中,作者们描述了该综合征的其他组成部分以及有关该疾病遗传背景的最新信息。