Gimñenez F, Carbonell R, Pérez F, Lozano I
Servicio de Otorrinolaringología, Hospital Gran Vía, Castellón.
An Otorrinolaringol Ibero Am. 1994;21(4):425-32.
Reporting one case of this condition type-2 with heterochromia iridis and cochlear deafness. The AA. review the syndrome's components and it nomenclature as well. They discuss about the convenience of including this deviation in the chapter of "diseases of the embryonic neural crest". The specific place of the gene responsibly in the chromosome-2 and the possibilities of genetic counselling are considered.
报告1例伴有虹膜异色症和耳蜗性耳聋的2型这种病症。作者回顾了该综合征的组成部分及其命名法。他们还讨论了将这种变异纳入“胚胎神经嵴疾病”章节的便利性。考虑了该基因在2号染色体上的具体位置以及遗传咨询的可能性。
