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Distinguishing a lymphadenopathy from neck swelling due to other causes may not be easy in children. The authors describe a case of an 18-month-old child who presented with unilateral partoid swelling, which was subsequently diagnosed as embryonal rhabdomysarcoma. Because of a family history of breast cancer and the association between breast cancer in a family and rhabdomyosarcoma, Li-Fraumeni syndrome, a more aggressive approach to diagnosis was pursued.

Li-Fraumeni syndrome – What does it mean for the general practitioner and general paediatrician?