Prenatal diagnosis of Klippel-Trenaunay syndrome: Series of four cases and review of the literature

Abstract

Klippel-Trenaunay syndrome is a rare disease with a classic triad of port wine stains, varicose veins, and bony and soft tissue hypertrophy of an extremity. The quality of life in these patients is significantly affected, making the prenatal diagnosis of Klippel-Trenaunay syndrome important. We present four prenatally diagnosed cases of this anomaly with a unique case of ectrodactyly of the hand in foetus with Klippel-Trenaunay syndrome. Such a combination has not been previously reported prenatally. A review of the literature for similar cases is also presented.

Keywords: Klippel–Trenaunay syndrome; ectrodactyly; outcome; prenatal diagnosis; prognosis.