Document Detail


Familial primary carpal tunnel syndrome with possible skipped generation.
MedLine Citation:
PMID:  19756731     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Carpal tunnel syndrome, an entrapment neuropathy of the median nerve, is rarely seen in childhood. Familial carpal tunnel syndrome, an even more exceptional entity, is frequently associated with inherited systemic disorders. Rarely it can be presented as a primary familial form with Mendelian autosomal dominant inheritance. We report the occurrence of carpal tunnel syndrome in two generations of a family in which the index case was a 6-year-old boy with bilateral hand pain and paresthesias. Our report demonstrates an interesting inheritance pattern of carpal tunnel syndrome in a family transmitted by an autosomal dominant gene with variable expressivity and reduced penetrance. To our knowledge, it is the first report of familial bilateral carpal tunnel syndrome in a family with possible skipped generation.
Authors:
Saliha Senel; Gulay Ceylaner; Deniz Yuksel; Nilgun Erkek; Candemir Karacan
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-09-05
Journal Detail:
Title:  European journal of pediatrics     Volume:  169     ISSN:  1432-1076     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2010 Apr 
Date Detail:
Created Date:  2010-02-12     Completed Date:  2010-05-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  453-5     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Dr. Sami Ulus Children's Health and Diseases Training and Research Hospital, Ankara, Turkey. drsaliha007@yahoo.com.tr
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MeSH Terms
Descriptor/Qualifier:
Carpal Tunnel Syndrome / genetics*,  physiopathology
Child
Humans
Male
Median Nerve / physiopathology

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