Document Detail


Terminal Deletion 2q37.3 in a Patient with Klippel-Trenaunay-Weber Syndrome.
MedLine Citation:
PMID:  23438794     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital disorder, characterized by capillary, venous and lymphatic vascular malformations in association with bone and soft tissue hypertrophy. We report a KTWS patient with extensive hemangiomatosis of the right lower limb, trunk and upper limbs; bone and soft tissue hypertrophy of upper limbs, scapular girdle and right lower limb; and muscle atrophy on left lower limb with marked body asymmetry, scoliosis and toe malformations. These pathological features are associated with moderate mental retardation, mild renal and hepatic abnormalities. We identified by array CGH (Comparative Genomic Hybridization) a submicroscopic deletion 2q37.3 that could be related to impaired cognitive function. To our knowledge this is the first reported 2q37.3 microdeletion in a patient with KTWS.
Authors:
Ileana Puiu; Alin Stoica; Simona Sosoi; Alexandra Puiu; Mihai Ioana; Florin Burada
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-2-25
Journal Detail:
Title:  Fetal and pediatric pathology     Volume:  -     ISSN:  1551-3823     ISO Abbreviation:  Fetal Pediatr Pathol     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-2-26     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101230972     Medline TA:  Fetal Pediatr Pathol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Department of Pediatrics, University of Medicine and Pharmacy from Craiova , Craiova , Romania.
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