[Waardenburg's syndrome].
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.
Gimñenez
F
F
Servicio de Otorrinolaringología, Hospital Gran Vía, Castellón.
Carbonell
R
R
Pérez
F
F
Lozano
I
I
D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2; D003638:Deafness / Q000150:complications*; D005145:Face / Q000002:abnormalities; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007499:Iris Diseases / Q000150:complications*; D014849:Waardenburg Syndrome / Q000235:genetics*
Síndrome de Waardenburg.