Woolly hair and palmoplantar hyperkeratosis may present with hypertrophic cardiomyopathy

被引:4
|
作者
Peirone, A
Bruno, E
Rossi, N
Alday, LE [1 ]
机构
[1] Childrens Hosp, Div Cardiol, Cordoba, Argentina
[2] Private Hosp, Genet Sect, RA-5016 Cordoba, Argentina
[3] Private Hosp, Pediat Cardiol Sect, RA-5016 Cordoba, Argentina
关键词
hypertrophic cardiomyopathy; woolly hair and palmoplantar hyperkeratosis; Naxos disease; Noonan's syndrome;
D O I
10.1007/s00246-004-0779-1
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Woolly hair and palmoplantar hyperkeratosis is an infrequent autosomal recessive ectodermal disorder that may be associated with arrhythmogenic right ventricular dysplasia (Naxos disease) or dilated cardiomyopathy. We report the sporadic occurrence of the aforementioned skin-hair anomalies in a patient with physical findings compatible with Noonan's syndrome and hypertrophic cardiomyopathyan association heretofore not described.
引用
收藏
页码:470 / 472
页数:3
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