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OSLAM syndrome

From Wikipedia, the free encyclopedia
OSLAM syndrome
Other namesOsteosarcoma-limb anomalies-erythroid macrocytosis syndrome
OSLAM syndrome is inherited in an autosomal dominant manner

OSLAM syndrome is a rare autosomal dominant hereditary disorder. Its name is an initialism of "osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow syndrome". OSLAM syndrome was recognised and described by Mulvilhill et al. as a syndrome that increases susceptibility to tumours and is characterised by an impaired regulation of bone and marrow development.[1][2]

Individuals with OSLAM syndrome have an elevated risk of bone cancer, limb abnormalities, and enlarged red blood cells.

Signs and symptoms

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Clinical presentation is consistent with:[citation needed]

Diagnosis

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Treatment

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See also

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References

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  1. ^ Mulvihill J.J., Gralnick H.R., Whang-Peng J., Leventhal B.G. (1977.) Multiple childhood osteosarcomas in an American Indian family with erythoid macrocytosis and skeletal anomalies, Cancer, 40(6):3115–3122.
  2. ^ Weber G.F. (2007.) Molecular Mechanisms of Cancer, Springer, pg. 558.
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