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颅面部遗传性骨内血管畸形:影像学表现

Hereditary intraosseous vascular malformation of the craniofacial region: imaging findings.

作者信息

Vargel I, Cil B E, Kiratli P, Akinci D, Erk Y

机构信息

Hacettepe University Hospitals, Plastic and Reconstructive Surgery, Ankara, Turkey.

出版信息

Br J Radiol. 2004 Mar;77(915):197-203. doi: 10.1259/bjr/88438282.

DOI:10.1259/bjr/88438282
PMID:15020360
Abstract

Benign vascular lesions can be classified into two categories depending on clinical behaviour and endothelial cell characteristics: neoplasms (haemangiomas) and vascular malformations. However, intraosseous vascular anomaly, previously called intraosseous haemangioma, is a very rare malformation. In our previous study, we described the first hereditary form of intraosseous vascular malformation of the craniofacial region, vascular malformation osseous (VMOS). Characteristic findings are autosomal recessive inheritance, severe and diffuse intraosseous vascular malformation in all craniofacial bones without soft tissue involvement and associated mid-line abnormalities such as umbilical hernia and supra-umbilical raphe. In this paper, we discuss the imaging findings of this new disorder in detail.

摘要

良性血管病变可根据临床行为和内皮细胞特征分为两类

肿瘤(血管瘤)和血管畸形。然而,骨内血管异常,以前称为骨内血管瘤,是一种非常罕见的畸形。在我们之前的研究中,我们描述了颅面区域骨内血管畸形的第一种遗传形式,即骨内血管畸形(VMOS)。其特征性表现为常染色体隐性遗传、所有颅面骨中严重且弥漫性的骨内血管畸形,无软组织受累,并伴有中线异常,如脐疝和脐上缝。在本文中,我们将详细讨论这种新疾病的影像学表现。

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