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Pachyonychia Congenita (Jadassohn‐Lewandowsky syndrome): A seventeen‐member, four‐generation pedigree with unusual respiratory and dental involvement

 

作者: J. B. Stieglitz,   W. R. Centerwall,   John M. Opitz,  

 

期刊: American Journal of Medical Genetics  （WILEY Available online 1983）
卷期: Volume 14, issue 1  

页码: 21-28

 

ISSN:0148-7299

 

年代: 1983

 

DOI:10.1002/ajmg.1320140105

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: pachyonychia congenita;thick nails;Jadassohn‐Lewandowsky syndrome;natal teeth, neonatal eruption of teeth;early, severe caries, early loss of carious teeth;leukokeratosis oris;follicular keratosis;laryngeal obstruction;hyperhidrosis;callouses, bullae, bli

 

数据来源: WILEY

 

摘要:

AbstractPachyonychia Congenita (PC) is an autosomal dominant syndrome of thick nails and other epithelial defects. A hospitalization for severe respiratory distress in a 3‐year‐old boy with PC and an affected father led to the discovery of 17 affected persons in a kindred spanning four generations. Nine relatives had varying degrees of upper respiratory tract obstruction, and eleven had dental aberrations.We review PC and discuss other unusual findings in this kindred, ie, arthritis in four affected relatives and a discrepancy between expected and observed ratios of affected to unaffected offspring of mothers with

 

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