PMID: 11932989Apr 5, 2002Paper

Hereditary intraosseous vascular malformation of the craniofacial region: an apparently novel disorder

American Journal of Medical Genetics
I VargelY Erk

Abstract

Primary intraosseous vascular anomaly, previously called intraosseous hemangioma, is a very rare malformation that is usually seen in the vertebral column and in the skull. It is exclusively described in sporadic cases and no hereditary component has yet been reported. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed. Here, we report two consanguineous families containing a total of four affected patients manifesting primary intraosseous vascular malformation (VMOS (vascular malformation osseous)) of the craniofacial region. The phenotypic expression is remarkably similar in both families. The characteristic findings include severe blood vessel expansions within the craniofacial bones and midline abnormalities such as diastasis recti, supraumbilical raphe, and hiatus hernia. Malformation is restricted to the mandibular and maxillary area in the prepubertal age, and rapid expansion starts after age 12 or 13. A 15-year follow-up of one of the patients demonstrated that the vascular malformation did not extend beyond the craniofacial region despite severe involvement of almost all bones in the skull. Detailed clinica...Continue Reading

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Citations

Feb 22, 2005·Skeletal Radiology·George Koulouris, Padma Rao
Nov 17, 2004·The British Journal of Oral & Maxillofacial Surgery·P L RamchandaniT K Mellor
Nov 4, 2006·Dento Maxillo Facial Radiology·S NekooeiM Talaei-Khoei
Mar 17, 2004·The British Journal of Radiology·I VargelY Erk
Aug 2, 2016·American Journal of Human Genetics·Arda CetinkayaNurten Ayse Akarsu
Aug 26, 2016·Neurosurgical Review·G Lakshmi Prasad, Kanthilatha Pai
Jun 4, 2004·The Annals of Otology, Rhinology, and Laryngology·Oliver FierekEkkehard Kunze
Sep 8, 2006·American Journal of Medical Genetics. Part a·M Michael Cohen
Jan 3, 2020·Pediatrics in Review·Stanley LeeMelvyn Braiman
Nov 3, 2017·Clinical Genetics·C MehawejA Mégarbané
May 10, 2007·Archives of Pathology & Laboratory Medicine·Sarah E Gibson, Richard A Prayson

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