Liu X Z, Newton V E, Read A P
Center for Audiology, Education of the Deaf and Speech Pathology, University of Manchester, United Kingdom.
Am J Med Genet. 1995 Jan 2;55(1):95-100. doi: 10.1002/ajmg.1320550123.
The Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant hereditary disorders. WS Type I has been mapped to the distal part of chromosome 2q and the gene identified as PAX3. Other gene(s) are responsible for WS Type II. Mapping WS Type II requires accurate diagnosis within affected families. To establish diagnostic criteria for WS Type II, 81 individuals from 21 families with Type II WS were personally studied, and compared with 60 personally studied patients from 8 families with Type I and 253 cases of WS (Type I or II) from the literature. Sensorineural hearing loss (77%) and heterochromia iridum (47%) were the two most important diagnostic indicators for WS Type II. Both were more common in Type II than in Type I. Other clinical manifestations, such as white forelock and skin patches, were more frequent in Type I. We estimate the frequency of phenotypic traits and propose diagnostic criteria for WS Type II. In practice, a diagnosis of WS Type II can be made with confidence given a family history of congenital hearing loss and pigmentary disorders, where individuals have been accurately measured for ocular distances to exclude dystopia canthorum.
瓦登伯革氏综合征（WS）至少由两种不同的常染色体显性遗传性疾病组成。I型WS已被定位到2号染色体长臂的远端，其基因被确定为PAX3。其他基因与II型WS有关。对II型WS进行定位需要在受影响的家族中进行准确诊断。为了确立II型WS的诊断标准，对来自21个II型WS家族的81名个体进行了亲自研究，并与来自8个I型家族的60名经亲自研究的患者以及文献中253例WS（I型或II型）病例进行了比较。感音神经性听力损失（77%）和虹膜异色症（47%）是II型WS的两个最重要的诊断指标。这两者在II型中比在I型中更为常见。其他临床表现，如白色额发和皮肤斑，在I型中更为常见。我们估计了表型特征的发生率，并提出了II型WS的诊断标准。在实际操作中，鉴于有先天性听力损失和色素沉着紊乱的家族史，且已对个体进行了准确的眼距测量以排除内眦异位，就可以自信地做出II型WS的诊断。
