Fanconi anemia x ray

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shyam Patel [2]

Overview

X-ray can show a variety of abnormalities in patients with Fanconi anemia. Although non-specific, some of the features include radial ray anomalies of the thumb, absent thumb, or triphalangeal thumb. A skeletal survey can be done to identify all developmental defects involving bone. Care should be taken to ensure that radiation doses are limited in patients with Fanconi anemia, since the DNA damage response is impaired and these patients can develop cancers due to radiation exposure. Care should be taken to avoid unnecessary radiation in patients with a cancer predisposition.

X-ray

Many of the congenital anomalies can be detected on imaging studies. These include:


Patient#1

Patient #2

References

  1. De Kerviler E, Guermazi A, Zagdanski AM, Gluckman E, Frija J (2000). "The clinical and radiological features of Fanconi's anaemia". Clin Radiol. 55 (5): 340–5. doi:10.1053/crad.2000.0445. PMID 10816398.
  2. Auerbach AD (2009). "Fanconi anemia and its diagnosis". Mutat Res. 668 (1–2): 4–10. doi:10.1016/j.mrfmmm.2009.01.013. PMC 2742943. PMID 19622403.
  3. De Kerviler E, Guermazi A, Zagdanski AM, Gluckman E, Frija J (2000). "The clinical and radiological features of Fanconi's anaemia". Clin Radiol. 55 (5): 340–5. doi:10.1053/crad.2000.0445. PMID 10816398.
  4. De Kerviler E, Guermazi A, Zagdanski AM, Gluckman E, Frija J (2000). "The clinical and radiological features of Fanconi's anaemia". Clin Radiol. 55 (5): 340–5. doi:10.1053/crad.2000.0445. PMID 10816398.