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Metaphyseal enchondromatosis

MedGen UID:
870667
Concept ID:
C4025121
Anatomical Abnormality
HPO: HP:0005868

Definition

An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins. [from HPO]

Recent clinical studies

Etiology

Gabos PG, Bowen JR
J Bone Joint Surg Am 1998 Jun;80(6):782-92. doi: 10.2106/00004623-199806000-00002. PMID: 9655096

Diagnosis

Rattanapornsompong K, Chetruengchai W, Srichomthong C, Theerapanon T, Porntaveetus T, Shotelersuk V
Am J Med Genet A 2024 Jun;194(6):e63557. Epub 2024 Feb 2 doi: 10.1002/ajmg.a.63557. PMID: 38305044

Prognosis

Gabos PG, Bowen JR
J Bone Joint Surg Am 1998 Jun;80(6):782-92. doi: 10.2106/00004623-199806000-00002. PMID: 9655096

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