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      Sonographic Identification of Klippel-Trenaunay-Weber Syndrome

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          Abstract

          Klippel-Trenaunay-Weber syndrome is a rare cutaneous vascular disorder characterized by the presence of multiple hemangiomata, arteriovenous fistulas, and limb hypertrophy. We report the prenatal sonographic findings in a case of Klippel-Trenaunay-Weber (KTW) syndrome including fetal limb hypertrophy and large subcutaneous cystic lesions. Prenatal diagnosis is possible by ultrasound examination and recognition important for prevention of complications and future management.

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          Most cited references17

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          Angiopoietin-2, a natural antagonist for Tie2 that disrupts in vivo angiogenesis.

          Angiogenesis is thought to depend on a precise balance of positive and negative regulation. Angiopoietin-1 (Ang1) is an angiogenic factor that signals through the endothelial cell-specific Tie2 receptor tyrosine kinase. Like vascular endothelial growth factor, Ang1 is essential for normal vascular development in the mouse. An Ang1 relative, termed angiopoietin-2 (Ang2), was identified by homology screening and shown to be a naturally occurring antagonist for Ang1 and Tie2. Transgenic overexpression of Ang2 disrupts blood vessel formation in the mouse embryo. In adult mice and humans, Ang2 is expressed only at sites of vascular remodeling. Natural antagonists for vertebrate receptor tyrosine kinases are atypical; thus, the discovery of a negative regulator acting on Tie2 emphasizes the need for exquisite regulation of this angiogenic receptor system.
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            Klippel-Trenaunay syndrome: current management.

            Klippel-Trenaunay syndrome (KTS) is a rare, sporadic, complex malformation characterized by the clinical triad of (1) capillary malformations (port wine stain); (2) soft tissue and bone hypertrophy or, occasionally, hypotrophy of usually one lower limb; and (3) atypical, mostly lateral varicosity. KTS is a mixed vascular malformation, with predominant capillary, venous and lymphatic components, without significant arteriovenous shunting. Management is largely conservative and the extent of diagnostic evaluation is determined by the planned treatment. Compression is the hallmark of conservative management; laser can be used to treat port wine stains. Imaging before vascular interventions must confirm venous anatomy and deep venous drainage. Techniques for ablation of superficial veins and malformations are individualized and may include sclerotherapy with alcohol or foam, endovenous thermal ablation or, as used most frequently in our practice, surgical stripping and phlebectomy. Intraoperative use of tourniquet will decrease bleeding, selective use of an inferior vena cava filter will prevent pulmonary embolism. A multidisciplinary approach to management of KTS is warranted.
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              Klippel-Trenaunay syndrome: clinical features, complications and management in children.

              Clinical features and management of 47 children with Klippel-Trenaunay syndrome treated since 1970 were reviewed. Haemangiomas and soft tissue and/or skeletal hypertrophy were present in all 47 patients; venous varicosities developed in 37 (79 per cent). There was no clinical evidence of macrofistulous arteriovenous communications in any patient. Thromboembolic episodes occurred in five children (11 per cent) and 25 (53 per cent) experienced thrombophlebitis. The Kasabach-Merritt syndrome was observed in 21 (45 per cent) and six (13 per cent) presented with high-output cardiac failure. Other manifestations included haematuria in five (11 per cent), rectal or colonic haemorrhage in six (13 per cent), and vaginal, vulval or penile bleeding in six (13 per cent) children with visceral and pelvic haemangiomas. In 26 patients (55 per cent) symptomatic treatment only was required. Surgery was undertaken in selected cases for complications of the haemangioma, for cosmetic reasons and for chronic venous insufficiency. Only one of four children who underwent resection of varicose veins improved. There was no death, but significant morbidity was associated with the treatment of Kasabach-Merritt syndrome and high-output cardiac failure.
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                Author and article information

                Journal
                Case Rep Obstet Gynecol
                Case Rep Obstet Gynecol
                CRIM.OBGYN
                Case Reports in Obstetrics and Gynecology
                Hindawi Publishing Corporation
                2090-6684
                2090-6692
                2013
                3 December 2013
                : 2013
                : 595476
                Affiliations
                1Department of Obstetrics and Gynecology, Kocaeli University School of Medicine, Kocaeli 41000, Turkey
                2Department of Obstetrics and Gynecology, Maternal-Fetal Unit, Kocaeli University School of Medicine, Kocaeli 41000, Turkey
                Author notes
                *Sule Yildirim Kopuk: suleyildirim@ 123456msn.com

                Academic Editors: A. Awonuga, A. Semczuk, and E. Shalev

                Author information
                http://orcid.org/0000-0002-5020-8323
                Article
                10.1155/2013/595476
                3866887
                24368952
                081e8757-3c63-46eb-b16e-25282f262928
                Copyright © 2013 Yigit Cakiroglu et al.

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 28 September 2013
                : 6 November 2013
                Categories
                Case Report

                Obstetrics & Gynecology
                Obstetrics & Gynecology

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