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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

Abstract

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 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.

Answers to the questions are on page 02

Answers to the questions on page 1

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

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Footnotes

  • Competing interests None declared.

  • Patient consent Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Correction notice This paper has been amended since it was published Online First. Author name May Chebl El Hachem has been amended to May El Hachem.

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