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词条 OSLAM syndrome
释义

  1. Symptoms

  2. Diagnosis

  3. Treatment

  4. See also

  5. References

  6. External links

{{Infobox medical condition (new)
| name = {{PAGENAME}}
| synonyms = Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome
| image = Autosomal dominant - en.svg
| alt =
| caption = OSLAM syndrome is inherited in an autosomal dominant manner
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}}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 {{Abbreviation|et al.|et alia (and others)}} 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.

Symptoms

  • Bone cancer
  • Curved fifth fingers (clinodactyly) with brachymesophalangy (shortened phalanges of the toes and/or fingers (digits))
  • Absence of one digital ray of the foot (a digit and corresponding metacarpal or metatarsal bone)
  • Bilateral radioulnar synostosis
  • Enlarged red blood cells
  • Dental decay
  • Short stature

Diagnosis

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Treatment

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See also

  • Li-Fraumeni syndrome

References

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.

External links

{{Medical resources
| ICD10 = C41.9
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| OMIM = 165660
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| eMedicineSubj =
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| MeSH = C537138
| GeneReviewsNBK =
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| Orphanet = 2760
}}{{genetic-disorder-stub}}

4 : Osseous and chondromatous neoplasia|Sarcoma|Hereditary cancers|Syndromes

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