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  • Title: [Genetic aspects in Klippel-Trenaunay syndrome].
    Author: Aelvoet GE, Jorens PG, Roelen LM.
    Journal: Phlebologie; 1991; 44(4):809-14. PubMed ID: 1666678.
    Abstract:
    A thorough study of the genetic aspects of Klippel-Trenaunay syndrome revealed two further cases of K.T. in the family 2 of the 86 patients questioned. In addition, 7/4,000 first degree relatives had flat angiomas. The authors suggest that these individuals are in fact "mini-Klippels". "Formes frustes" of the syndrome can be explained by variable expression of the genetic defect. In all, 7/86 families were of particular genetic interest: - two families with two individuals suffering from KTS; - five families with several individuals with flat angiomas on one or more limbs. All these findings suggest multifactorial inheritance of the syndrome. It is not possible to calculate the precise probability of inheritance of the syndrome on the basis of our figures but we consider it to be of the order of 1 to 2%.
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