Clark R D, Donnai D, Rogers J, Cooper J, Baraitser M
Am J Med Genet. 1987 May;27(1):99-117. doi: 10.1002/ajmg.1320270111.
We report on 11 new cases of Proteus syndrome to illustrate the broad range of the phenotype in this hamartomatous dysplasia. The cardinal manifestations of this sporadic disorder are hemihypertrophy, macrodactyly, exostoses, scoliosis, cavernous hemangiomas, lipomas, linear sebaceous nevi, and deeply rugated soles of the feet. Intelligence is usually normal. The differential diagnosis includes Klippel-Trenaunay-Weber and partial lipodystrophy syndromes.
我们报告了11例新的变形杆菌综合征病例，以说明这种错构瘤性发育异常的广泛表型。这种散发性疾病的主要表现为半身肥大、巨指（趾）、外生骨疣、脊柱侧弯、海绵状血管瘤、脂肪瘤、线状皮脂腺痣以及足底深皱纹。智力通常正常。鉴别诊断包括克-特-韦综合征和部分脂肪营养不良综合征。
