1.
HNO
; 61(7): 617-9, 2013 Jul.
Artículo
en Alemán
| MEDLINE
| ID: mdl-23247752
RESUMEN
The combination of sensorineural hearing loss and keratoderma on the hands and feet is rare. We report the case of a child that failed newborn hearing screening and also showed keratoderma on both hands and feet. The child's father exhibited the same constellation of symptoms, which is typical for mutilating keratoderma with deafness (Vohwinkel syndrome). This hereditary autosomal dominant disease is caused by mutation of the GJB2 gene that encodes the protein connexin 26. In our case it was highly likely that the GJB2 gene in the father carried a spontaneous mutation that was inherited by the daughter.
Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Múltiples/terapia , Fármacos Dermatológicos/uso terapéutico , Deformidades Congénitas de la Mano/diagnóstico , Deformidades Congénitas de la Mano/terapia , Audífonos , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/terapia , Queratodermia Palmoplantar/diagnóstico , Queratodermia Palmoplantar/terapia , Terapia Ocupacional , Logopedia , Anomalías Múltiples/genética , Preescolar , Terapia Combinada , Conexina 26 , Conexinas , Femenino , Deformidades Congénitas de la Mano/genética , Pérdida Auditiva Sensorineural/genética , Humanos , Queratodermia Palmoplantar/genética
2.
Laryngorhinootologie
; 94(5): 322-323, 2015 May.
Artículo
en Alemán
| MEDLINE
| ID: mdl-25429636