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鼻睑脂肪瘤-缺损综合征:一例新散发病例的临床、影像学及组织病理学描述

Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case.

作者信息

Chacon-Camacho Oscar F, Lopez-Martinez Monica S, Vázquez Johanna, Nava-Castañeda Angel, Martin-Biasotti Fernando, Piña-Aguilar Raul E, Iñiguez-Soto Marisol, Acosta-García Job, Zenteno Juan C

机构信息

Department of Genetics, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico.

出版信息

Am J Med Genet A. 2013 Jun;161A(6):1470-4. doi: 10.1002/ajmg.a.35916. Epub 2013 May 1.

Abstract

Nasopalpebral lipoma-coloboma syndrome is an extremely uncommon autosomal dominant condition characterized by congenital upper eyelid and nasopalpebral lipomas, colobomata of upper and lower eyelids, telecanthus, and maxillary hypoplasia. A few familial and sporadic cases of this malformation syndrome have been previously reported. Here, the clinical, radiological, and histopathological features of a sporadic Mexican patient with the nasopalpebral lipoma-coloboma syndrome are described. To our knowledge, this is the first time that craniofacial 3D computed tomography imaging was used for a detailed assessment of the facial lipoma.

摘要

鼻睑脂肪瘤-缺损综合征是一种极为罕见的常染色体显性疾病,其特征为先天性上睑和鼻睑脂肪瘤、上下眼睑缺损、内眦距增宽和上颌骨发育不全。此前已有少数该畸形综合征的家族性和散发性病例报道。在此,描述了一名患有鼻睑脂肪瘤-缺损综合征的散发性墨西哥患者的临床、放射学和组织病理学特征。据我们所知,这是首次将颅面部三维计算机断层扫描成像用于对面部脂肪瘤的详细评估。

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