Prenatal sonographic appearances of Klippel–Trenaunay–Weber syndrome

Abstract

A case of prenatal Klippel Trenaunay-Weber syndrome is presented, with a description of the sonographically observed disease progression in utero. The appearance of a complex thoracic multicystic mass in association with progressive unilateral lower limb enlargement was strongly suspicious of this disorder. Colour-flow Doppler studies of the cutaneous haemangiomata in utero were not of diagnostic assistance in this case. The prenatal detection of the large cutaneous haemangiomata was of critical importance in minimizing delivery trauma for the mother and fetus.

Prenatal Sonographic Diagnosis of Klippel-Trenaunay-Weber Syndrome Associated with Umbilical Cord Hemangioma

“…14 In the index case, the prenatal diagnosis was made by ultrasonography at 22 weeks' gestation and no remarkable clue was obtained from her family history. Surprisingly, like a case reported by Roberts et al, 4 in our case also, we were not able to determine any blood flow in the hypertrophic limb by color Doppler. Other alternative diagnostic modilities, in utero magnetic resonance imaging (MRI) or 3D ultrasound, were performed in different cases to establish accurate prenatal diagnosis.…”

“…Klippel-Trenaunay-Weber (KWT) syndrome is a rare disorder and its prenatal diagnosis has been reported in sporadic cases. [1][2][3][4] It is characterized by the presence of cutaneous hemangiomata, asymmetric limb and/or trunk hypertrophy, and varicosities. Unilateral leg hypertrophy is the most common finding.…”

Klippel-Trenaunay-Type Syndrome in Pregnancy

“…Although the mode of inheritance of KTTS and the risk of transmission from an affected mother to a fetus is unknown, prenatal diagnosis by ultrasound has been reported (42)(43)(44). The earliest known prospective intrauterine diagnosis of KTTS occurred at 17 weeks (43,44).…”

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

“…Usually, KTS is diagnosed in the second half of pregnancy; however, there are reports about diagnosis of KTS at 17-20 weeks' gestation. [10][11][12][13][16][17]20 The earliest in utero manifestations were described by Meizner et al at 14 weeks. 14 The earliest prenatal diagnosis was made by Shih et al 18 at 15 weeks.…”

“…Additional findings includes ventriculomegaly, cataracts, cardiomegaly, hydrops, polyhydramnios, thickening of the placenta, oligohydramnios. 8,[15][16][17]26,30,33 With the increasing gestational age, the haemangioma growth spreads to the trunk, new tumours appear (including tumours in the abdomen and chest), and hypertrophy of the affected limb develops. 40 The combination of KTS with hand and foot defects is well known with split hand malformation being the rarest one.…”