Chandra Mohan Setty L N
Department of Otolaryngology and Head and Neck Surgery, Mahatma Gandhi Memorial Hospital Warangal, Flat no 46, Bhagya Nagar Apartments, RTC Cross Roads, Hyderabad, 500020, Telangana, India.
J Otol. 2018 Sep;13(3):105-110. doi: 10.1016/j.joto.2018.05.005. Epub 2018 Jun 8.
Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease. Three genes have been bestowed so far in consociation with EDNRB, EDN3, and SOX10 genes. The pattern of inheritance is multifarious with the SOX10 mutation affiliation with autosomal dominant inheritance whereas the EDNRB and EDN3 genes are passed down in an autosomally recessive pattern.
瓦登伯革氏综合征是一种罕见疾病，其特征为感音神经性耳聋并伴有色素沉着缺陷。根据其他症状，瓦登伯革氏综合征已被分为四种类型。4型瓦登伯革氏综合征，也称为瓦登伯革 - 沙阿综合征，是一种非常罕见的先天性疾病，临床表现差异惊人，其特征为毛发色素异常（一缕白色额发、过早变白）和虹膜色素变化，如虹膜异色症或虹膜同色症、感音神经性耳聋和先天性巨结肠病。迄今为止，已发现三个与EDNRB、EDN3和SOX10基因相关的基因。遗传模式多种多样，SOX10突变与常染色体显性遗传相关，而EDNRB和EDN3基因则以常染色体隐性模式遗传。
