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

Rakesh Kumar | Zendy; Magdi Ghali | Zendy

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

Author(s) -

Rakesh Kumar,

Magdi Ghali

Publication year - 1998

Publication title -

paediatrics and child health

Language(s) - English

Resource type - Journals

eISSN - 1918-1485

pISSN - 1205-7088

DOI - 10.1093/pch/3.6.411

Subject(s) - medicine , rhabdomyosarcoma , li–fraumeni syndrome , family history , pediatrics , breast cancer , cancer , oncology , pathology , sarcoma , mutation , gene , genetics , germline mutation , biology

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.

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