Sonographic identification of lower limb venous hypoplasia in the prenatal diagnosis of Klippel–Trénaunay syndrome

Authors

  • P. R. Coombs,

    Corresponding author
    1. Department of Medical Imaging and Radiation Sciences, Faculty of Medicine, Monash University, Ultrasound Department, Monash Medical Centre, Clayton, Australia
    • Department of Medical Imaging and Radiation Sciences, Faculty of Medicine, Monash University, Ultrasound Department, Monash Medical Centre, 246 Clayton Rd, Clayton, Australia 3168
    Search for more papers by this author
  • P. A. James,

    1. Genetic Health Services Victoria, Special Medicine Centre, Monash Medical Centre, Clayton, Australia
    Search for more papers by this author
  • A. G. Edwards

    1. Perinatal Services, Monash Medical Centre, Clayton, Australia
    Search for more papers by this author

Abstract

We report the prenatal identification of lower-limb venous hypoplasia to support a provisional prenatal diagnosis of Klippel–Trénaunay syndrome (KTS). Ultrasound assessment of a fetus with marked lower-limb edema, cystic areas in the abdomen/pelvis/lower limbs and abnormal development of the feet demonstrated bilateral hypoplasia of the femoral and popliteal veins. The external iliac veins and the great saphenous veins were seen to be normal. The lower limb arterial system was present. These findings supported KTS as the most likely provisional diagnosis, and postnatal clinical evaluation confirmed that the infant is best classified in the spectrum of KTS. Venous hypoplasia was confirmed with a postnatal ultrasound examination of the lower limbs. This case suggests that careful examination of the lower-limb venous system may be helpful in making the prenatal diagnosis of KTS. Copyright © 2009 ISUOG. Published by John Wiley & Sons, Ltd.

Ancillary