Subject(s)
Arteriovenous Malformations/complications , Klippel-Trenaunay-Weber Syndrome/complications , Abnormalities, Multiple/psychology , Arteriovenous Malformations/psychology , Arteriovenous Malformations/therapy , Body Image , Humans , Klippel-Trenaunay-Weber Syndrome/psychology , Klippel-Trenaunay-Weber Syndrome/therapy , Quality of Life , Self ConceptABSTRACT
An extensive search for a genetic pattern in Klippel-Trenaunay syndrome (KTS) revealed two other cases of KTS in the families of two of the 86 patients with this vascular syndrome who were questioned. Patients with KTS also had family members with other malformations: e.g. hemihypertrophy in one family, and a prevalence of 7/400 of naevi flammei in first-degree relatives of KTS patients was observed. We suggest that KTS can be inherited in a multifactorial way and a range of vascular malformations can be observed in the family members of patients with this syndrome.
Subject(s)
Klippel-Trenaunay-Weber Syndrome/genetics , Adolescent , Adult , Aged , Causality , Child , Child, Preschool , Extremities/pathology , Family , Female , Humans , Hypertrophy , Male , Middle Aged , Nevus, Pigmented/genetics , Pedigree , Skin Neoplasms/genetics , Varicose Veins/geneticsABSTRACT
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%.
