" /> Vascular malformation, primary intraosseous - CISMeF





Preferred Label : Vascular malformation, primary intraosseous;

Symbol : VMPI;

CISMeF acronym : VMOS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vascular malformation osseous; VMOS; Hemangioma, intraosseous;

Description : Primary intraosseous vascular anomaly, previously called intraosseous hemangioma, is a rare malformation that usually involves the vertebral column and the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequent (Vargel et al., 2002).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the engulfment and cell motility gene-2 gene (ELMO2, 606421.0001);

Laboratory abnormalities : Elevated alkaline phosphatase; Elevated lactate dehydrogenase (in some patients);

Prefixed ID : #606893;

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04/05/2025


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