Prenatal diagnosis of Klippel-Trenaunay syndrome: Case report and review of literature

Klippel-Trénaunay syndrome (KTs) is a rare but well-documented congenital anomaly characterized by: cutaneous capillary malformations, soft tissue or bone hypertrophy (or both) and varicose veins or venous malformations. Prognosis depends on severity, progressive nature of the malformations and associated anomalies. As it is a lifelong condition, treatment requires a multidisciplinary approach. We described a fetus in the 20th week of pregnancy who showed at ultrasound examination the presence of multiple anechoic cystic areas involving the right thigh, leg, perineum and abdomen, suggesting KTs syndrome. The mother opted for interruption of pregnancy. Autopsy confirmed the diagnosis. We also provide a review of the literature, with emphasis on fetal prognosis and prenatal counselling.