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Foot or hand malformations related to deep venous system anomalies of the lower limb in Klippel-Trénaunay syndrome.

BACKGROUND: Klippel-Trénaunay syndrome (KTS) is a capillary-lymphatic-venous malformation associated with soft tissue and skeletal hypertrophy of one or more limbs. Deep venous system (DVS) anomalies are reported to be present in 8% to 18% of patients with KTS; approximately 25% of patients with KTS have hand or foot malformations.

OBJECTIVE: We sought to assess whether the presence of hand or foot malformations in KTS is a predictor of DVS anomalies.

METHODS: Retrospective data were collected from 51 consecutive patients with KTS seen in a university hospital between January 2000 and February 2008. Patients with possible Proteus syndrome were not included. The presence and patency of the DVS was studied using conventional venography, multidetector computed tomography, or fast 3-dimensional magnetic resonance imaging venography.

RESULTS: Seventeen hand or foot malformations were present in 9 patients, consisting of: toe macrodactyly in 5 patients (two bilateral and one with plantar expansion); toe microdactyly in one patient; finger macrodactyly in one patient; finger macrodactyly and ectrodactyly in one patient; syndactyly in 4 patients; and clinodactyly with camptodactyly of the hand of one patient with lower limb KTS. Eleven patients had DVS anomalies (one with aplasia of entire DVS; one with duplication of the superficial femoral vein; 7 with hypoplasia of femoral vein; and 7 with aplasia of the popliteal vein). All patients with hand or foot malformations also had DVS anomalies (P < .001).

LIMITATIONS: Small sample size was a limitation.

CONCLUSION: The presence of hand or foot malformations in KTS may predict the presence of DVS anomalies.

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