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Limb hypertrophy: a skin vascular malformation and bilateral hydroureteronephrosis in a neonate
  1. Grazia Morandi1,
  2. Claudia Piona1,
  3. Daniela Degani1,
  4. May El Hachem2,
  5. Nicoletta Resta3,
  6. Carmela Richelli4,
  7. Silvana Lauriola4
  1. 1 Unit of Pediatrics, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy
  2. 2 Dermatology Unit, Bambino Gesù Children’s Hospital, IRCCS, Roma, Italy
  3. 3 Department of Biomedical Sciences and Human Oncology, Medical Genetics Unit, Aldo Moro University of Bari, Bari, Italy
  4. 4 Neonatal Unit, Azienda Ospedaliera Universitaria Integrata, Verona, Italy
  1. Correspondence to Dr Grazia Morandi, Unit of Pediatrics, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona 37126, Italy; grazia.morandi{at}gmail.com

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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 …

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