Literature DB >> 7671406

Familial Klippel-Trenaunay syndrome: a case report.

N Craven1, A L Wright.   

Abstract

We present a case of familial occurrence of Klippel-Trenaunay syndrome (thought to be the first such reported in a family from the UK), and the results of an investigation into associated abnormalities in related family members. The findings are compatible with recent suggestions that the syndrome may be inherited, and that isolated naevi flammei may, at least in some instances, have a similar genetic basis, possibly representing a forme fruste of the syndrome.

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Year:  1995        PMID: 7671406     DOI: 10.1111/j.1365-2230.1995.tb01292.x

Source DB:  PubMed          Journal:  Clin Exp Dermatol        ISSN: 0307-6938            Impact factor:   3.470


  4 in total

1.  Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth.

Authors:  N Revencu; L M Boon; A Dompmartin; P Rieu; W L Busch; J Dubois; F Forzano; J M van Hagen; S Halbach; A Kuechler; A M A Lachmeijer; J Lähde; L Russell; K O J Simola; J B Mulliken; M Vikkula
Journal:  Mol Syndromol       Date:  2013-04-11

2.  Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.

Authors:  Aggeliki Dimopoulos; Robert J Sicko; Denise M Kay; Shannon L Rigler; Ruzong Fan; Paul A Romitti; Marilyn L Browne; Charlotte M Druschel; Michele Caggana; Lawrence C Brody; James L Mills
Journal:  Am J Med Genet A       Date:  2016-11-30       Impact factor: 2.802

3.  Clinical Experience of the Klippel-Trenaunay Syndrome.

Authors:  Hyung Min Sung; Ho Yun Chung; Seok Jong Lee; Jong Min Lee; Seung Huh; Jeong Woo Lee; Kang Young Choi; Jung Dug Yang; Byung Chae Cho
Journal:  Arch Plast Surg       Date:  2015-09-15

4.  An unusual evolution of a case of Klippel-Trenaunay syndrome.

Authors:  Valter Martino; Alessia Ferrarese; Borello Alessandro; Alberto Bullano; Silvia Marola; Alessandra Surace; Valentina Gentile; Marco Bindi; Mario Solej; Stefano Enrico
Journal:  Open Med (Wars)       Date:  2015-12-17
  4 in total

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