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

页码：50 / 52

页数：3

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