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A 12-year-old boy was admitted to the paediatric ward with a 4-month history of worsening pain and bruising to his legs, which had resulted in a progressive reduction in his mobility. He initially had had difficulty weight bearing, which had then progressed further making him wheelchair bound. On examination, there was extensive bruising (figure 1) to his oedematous legs, worse on his right leg compared with his left. His background of autism and 15q13.3 deletion, along with maternal learning difficulties, made deciphering a clear history
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