Rothmund-Thomson syndrome and osteosarcoma.
A 10-year-old girl with Rothmund-Thomson syndrome developed a fibular osteosarcoma. Standard chemotherapy produced intolerable toxicity, necessitating a modification of therapy. Initial DNA repair studies on skin fibroblasts were abnormal, but repeat studies failed to reproduce the defects.
Judge
M R
MR
Department of Dermatology, Hospital for Sick Children, London, U.K.
Kilby
A
A
Harper
J I
JI
D001859:Bone Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging; D004260:DNA Repair; D005260:Female; D005360:Fibula / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D012516:Osteosarcoma / Q000150:complications* / Q000000981:diagnostic imaging; D011859:Radiography; D011038:Rothmund-Thomson Syndrome / Q000150:complications* / Q000000981:diagnostic imaging