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Limb hypertrophy: a skin vascular malformation and bilateral hydroureteronephrosis in a neonate

The second daughter of two healthy non-consanguineous parents, born at 37 weeks, presented with a large 3×2 cm abdominal angiomatous formation on her left flank, associated with left leg hypertrophy, macrodactyly of both feet with syndactyly of the second and third finger of the right food and left polydactyly (figure 1). Her neurological development and cardiopulmonary function were normal; she had no gastrointestinal or skeletal problems. Her weight was 3195 g (75th–90th centile).

Figure 1

Photos of the lower limbs and the left side of the abdomen reveal bilateral hypertrophy of the limbs, more evident in the left leg, macrodactyly of both feet with syndactyly of the second and third finger of the right foot and left polydactyly and a large abdominal angiomatous formation.

Questions 1 What investigations would you think of in a baby with limb hypertrophy and a vascular malformation?

  1. Limb X-rays followed by abdominal and limb CT scan

  2. Limb muscles and soft tissues MRI

  3. Kidney and limb ultrasound followed by abdominal and limb CT scan

  4. Thigh, leg and abdominal MRI and in second instance brain MRI

  5. Thigh, leg and abdominal CT scan and brain MRI.

Questions 1

Questions 2 Which overgrowth syndrome includes limb hypertrophy, skin vascular malformations and bilateral hydroureteronephrosis?

  1. Neurofibromatosis type I

  2. Sotos syndrome

  3. Beckwith-Wiedemann syndrome

  4. Madelung’s disease

  5. PIK3CA-related overgrowth spectrum (PROS) disorder.

Questions 2

  • neonatal malformations
  • differential diagnosis
  • pik3ca-related overgrowth spectrum (pros) disorder

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