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).
Questions 1 What investigations would you think of in a baby with limb hypertrophy and a vascular malformation?
Limb X-rays followed by abdominal and limb CT scan
Limb muscles and soft tissues MRI
Kidney and limb ultrasound followed by abdominal and limb CT scan
Thigh, leg and abdominal MRI and in second instance brain MRI
Thigh, leg and abdominal CT scan and brain MRI.
Questions 2 Which overgrowth syndrome includes limb hypertrophy, skin vascular malformations and bilateral hydroureteronephrosis?
Neurofibromatosis type I
PIK3CA-related overgrowth spectrum (PROS) disorder.
- neonatal malformations
- differential diagnosis
- pik3ca-related overgrowth spectrum (pros) disorder
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