伴有并指（趾）畸形的巨脂性营养障碍

Macrodystrophia lipomatosa with syndactyly.

作者信息

Mahafza Waleed S, Haroun Azmi A, Abdul-Wahab Ahmed D, Hadidi Shaher T

机构信息

Department of Radiology, Jordan University Hospital, Amman, Jordan.

出版信息

Saudi Med J. 2008 Aug;29(8):1194-6.

PMID:18690319

Abstract

Macrodystrophia lipomatosa (MDL) is a rare form of congenital localized gigantism characterized by hypertrophy of all mesenchymal tissues of the affected digits, with particular overgrowth of fat. Syndactyly is a rare association. We report a case of MDL associated with syndactyly affecting the hand. We describe the characteristic radiographic and MRI findings that distinguish the abnormality from other causes of localized gigantism.

摘要

巨指（趾）脂肪营养不良（MDL）是一种罕见的先天性局限性巨大症，其特征为受累手指的所有间充质组织肥大，尤其是脂肪过度生长。并指（趾）是一种罕见的关联表现。我们报告一例MDL合并并指（趾）累及手部的病例。我们描述了将该异常与其他局限性巨大症病因相鉴别的特征性影像学（X线及磁共振成像）表现。