AUTOSOMAL DOMINANT PALMOPLANTAR HYPERKERATOSIS AND SENSORINEURAL DEAFNESS IN 3 GENERATIONS

被引：30
|
作者：
SHARLAND, M
BLEACH, NR
GOBERDHAN, PD
PATTON, MA
机构：
[1] MAYDAY HOSP,DEPT EAR NOSE & THROAT,CROYDON,ENGLAND
[2] MAYDAY HOSP,DEPT AUDIOL,CROYDON,ENGLAND
来源：
JOURNAL OF MEDICAL GENETICS | 1992年 / 29卷 / 01期
关键词：
D O I：
10.1136/jmg.29.1.50
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A family is presented with autosomal dominant progressive palmoplantar hyperkeratosis, which is invariably associated with a slowly progressive, bilateral, high frequency, sensorineural hearing loss. The family show no other ectodermal abnormality. The differential diagnosis and possible mechanisms are discussed. This family appears to represent a unique variant in the hyperkeratosis-deafness association.
引用
收藏
页码：50 / 52
页数：3
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