Literature DB >> 12804981

Klippel-Trenaunay syndrome and Sturge-Weber syndrome: variations on a theme?

Wynand Vissers1, Maurice Van Steensel, Peter Steijlen, Willy Renier, Peter Van De Kerkhof, Carine Van Der Vleuten.   

Abstract

We describe a patient with a complex neurocutaneous syndrome of congenital vascular malformations, abnormalities of brain and bones, and soft tissue hypertrophy of one leg. According to eponymous classification schemes, the patient can be assigned to two different clinical entities. Using the lethal gene theory it is possible to unify these different syndromes and to explain the overlap and diversity of these congenital vascular syndromes. We argue that it is better to describe such vascular malformation syndromes in anatomical/histological or functional terms and map the extent of the disease, rather than name it according to the eponymous classification.

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Year:  2003        PMID: 12804981

Source DB:  PubMed          Journal:  Eur J Dermatol        ISSN: 1167-1122            Impact factor:   3.328


  8 in total

1.  Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

Authors:  Matthew D Shirley; Hao Tang; Carol J Gallione; Joseph D Baugher; Laurence P Frelin; Bernard Cohen; Paula E North; Douglas A Marchuk; Anne M Comi; Jonathan Pevsner
Journal:  N Engl J Med       Date:  2013-05-08       Impact factor: 91.245

2.  High output heart failure caused by extensive arteriovenous malformation: problems and pregnancy.

Authors:  Simon William Dubrey; Rowan Hillson; Maher Dahdal
Journal:  BMJ Case Rep       Date:  2009-03-17

Review 3.  Neurocutaneous Manifestations of Genetic Mosaicism.

Authors:  Maurice A M van Steensel
Journal:  J Pediatr Genet       Date:  2015-11-30

4.  Klippel-Trenaunay and Sturge-Weber overlapping syndrome in a Saudi boy.

Authors:  Amal Y Kentab
Journal:  Sudan J Paediatr       Date:  2016

5.  Focal venous hypertension as a pathophysiologic mechanism for tissue hypertrophy, port-wine stains, the Sturge-Weber syndrome, and related disorders: proof of concept with novel hypothesis for underlying etiological cause (an American Ophthalmological Society thesis).

Authors:  Cameron F Parsa
Journal:  Trans Am Ophthalmol Soc       Date:  2013-09

Review 6.  Spinal arteriovenous malformations associated with Klippel-Trenaunay-Weber syndrome: a literature search and report of two cases.

Authors:  M Rohany; A Shaibani; O Arafat; M T Walker; E J Russell; H H Batjer; C C Getch
Journal:  AJNR Am J Neuroradiol       Date:  2007-03       Impact factor: 3.825

7.  Renal lymphangiomatosis, interrupted IVC with persistent primitive hepatic venous plexus and multiple anomalous venous channels: parts of an overlap syndrome?

Authors:  Tom Watson; Ester Martinez; David Crabbe; Phillip Chetcuti; Jeannette K Kraft
Journal:  Pediatr Radiol       Date:  2011-07-20

8.  Klippel-Trenaunay and Sturge-Weber overlap syndrome with phakomatosis pigmentovascularis.

Authors:  Monika Chhajed; Sadbhavna Pandit; Neeraj Dhawan; Amit Jain
Journal:  J Pediatr Neurosci       Date:  2010-07
  8 in total

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