title: Terminal deletion 2q37.3 in a patient with Klippel-Trenaunay-Weber syndrome.
abstract: 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: Department of Pediatrics, University of Medicine and Pharmacy from Craiova, Romania.
authors: Ileana
authors: I
authors: Puiu
authors: Alin
authors: A
authors: Stoica
authors: Simona
authors: S
authors: Sosoi
authors: Alexandra
authors: A
authors: Puiu
authors: Mihai
authors: M
authors: Ioana
authors: Florin
authors: F
authors: Burada
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D005121:Extremities / Q000473:pathology; D006801:Humans; D006984:Hypertrophy; D007715:Klippel-Trenaunay-Weber Syndrome / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male