Newborn With Port-Wine Stain and Leg Hypertrophy

This newborn was noted to have an impressive nevus flammeus on the trunk and left lower extremity (A). He was also noted to have subtle hypertrophy of the left lower extremity: his left foot was about 0.5 cm wider and longer than the right (B), and his left leg was 0.75 cm longer than the right. Measurement of the mid thigh circumference and mid calf circumference of both legs also demonstrated hypertrophy of the left limb.

The baby had been delivered vaginally at term. His weight was 3162 g (6.9 lb). Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. The infant had no respiratory distress and no heart murmur. Pulses and blood pressures were normal in all extremities. A vascular nevus, varicosities, and ipsilateral hypertrophy are all part of Klippel-Trenaunay syndrome (KTS), first described by Klippel and Trenaunay¹ in 1900.

The vascular nevus is present at birth, is widespread, and usually involves the trunk and one extremity. ² Varicosities may not be apparent until the infant is ambulatory. ³ Limb hypertrophy is usually evident, although subtle, at birth and is progressive, possibly because of increased blood flow.⁴ The growth affects either bone or soft tissue or both and can encompass an entire limb or be isolated to a single digit. However, hypotrophy of the body part can occur.⁵ When examining a newborn with an extensive vascular malformation involving a limb, check for asymmetric growth, which is often present at birth. Measure the length and girth of the affected extremity during the initial examination and at every subsequent visit. The etiology and pathogenesis of KTS are not well understood and remain obscure. The condition should be considered a sporadic event.⁵