Osteosarcoma associated with absent thumbs: A report of two cases

Lisa Orme, Richard Gorlick, Paul A. Meyers, Edward Athanasian, Andrew G. Huvos

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


An 8-year-old Hispanic boy with a hypoplastic left thumb, absent right thumb, and short stature experienced right leg pain and limp. A right tibial lesion was imaged and found to be osteosarcoma on biopsy. A 6-year-old Hispanic girl with congenitally absent thumbs experienced a pathologic fracture of her left femur after a minor sports injury. The radiologic abnormality seen was diagnosed as osteosarcoma on biopsy. Both patients continue to do well after intensive preoperative and postoperative high-dose chemotherapy and definitive reconstructive limb surgery. Osteosarcoma has been linked to several congenital syndromes in which absent thumbs are a feature. These two patients with absent thumbs and no definable syndrome experiencing osteosarcoma suggest that congenitally absent thumbs might be a risk factor for osteosarcoma in the absence of a syndrome.

Original languageEnglish (US)
Pages (from-to)73-77
Number of pages5
JournalAmerican Journal of Pediatric Hematology/Oncology
Issue number1
StatePublished - Jan 1 2000


  • Baller-gerold syndrome
  • Fanconi anemia
  • Hypoplastic-aplastic thumb
  • Osteosarcoma
  • Rothmund-thomson syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology


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