[Clinical and genetic characteristics of the Klippel-Trenaunay syndrome].

The authors examined comprehensively a group of 23 patients with angiodysplastic changes of the type of Klippel-Trenaunay's syndrome. It is a longitudinal investigation, incl. a paediatric and genetic examination. The authors recorded the main phenotypical characteristics of the disease with emphasis on biomechanical aspects. The genealogical examination revealed microsymptoms in the family in a total of 52.2%, such as varicose veins and crural ulcers, haemangiomas and congenital heart disease. The genetic examination proves the assumed polygenic type of heredity with a low risk for grade 1 relatives, i.e. children and siblings of the affected subjects, who are isolated cases in the pedigree. In rare instances the authors recorded complete transmission in two generations. The clinical picture of the disease involves above all hemihypertrophy or asymmetry ensuing from trophic changes, mainly of the extremities and adequate part of the trunk. These changes were recorded in 100% of the investigated patients. Usually the lower half of the body is affected--52.2%, a lateral predilection was not observed. The authors mention also other facultative characteristics of the syndrome.