Parkes Weber syndrome occurring in a family with capillary malformations.

Abstract:

:Parkes Weber syndrome is a disorder characterized by cutaneous blush, arteriovenous fistula, and overgrowth of the affected limb. It has been differentiated from Klippel-Trenaunay syndrome on the basis of the presence of arteriovenous fistula that are always absent in the latter. We report a case of Parkes Weber syndrome with diffuse arteriovenous high flow leading to hemodynamic complications but without radiographic evidence of arteriovenous fistula. There are multiple individuals in the family with capillary malformations inherited in an autosomal dominant pattern. These observations reinforce the suggestions that Parkes Weber syndrome and capillary malformations may share a common pathogenetic pathway.

journal_name

Clin Dysmorphol

journal_title

Clinical dysmorphology

authors

Brunetti-Pierri N,Seidel GF,Levy ML,Reid Sutton V

doi

10.1097/MCD.0b013e3280f6cff2

subject

Has Abstract

pub_date

2007-07-01 00:00:00

pages

167-71

issue

3

eissn

0962-8827

issn

1473-5717

pii

00019605-200707000-00006

journal_volume

16

pub_type

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