Malamitsi-Puchner A, Kitsiou S, Bartsocas C S
Am J Med Genet. 1987 May;27(1):119-25. doi: 10.1002/ajmg.1320270112.
We describe an 18-month-old Greek boy with macrocephaly, partial gigantism of hands and feet, hemihypertrophy, pigmented nevi, and other anomalies compatible with the Proteus syndrome. Cerebral involvement in a most severe form and at an early age concurs with the suggestion that encephalocraniocutaneous lipomatosis may represent a more circumscriptive manifestation of Proteus syndrome. Localized triggering of several growth factors is a challenging pathogenetic consideration of the syndrome.
我们描述了一名18个月大的希腊男孩，他患有巨头症、手足部分巨大症、半身肥大、色素痣以及其他与变形综合征相符的异常症状。大脑在早期就以最严重的形式受累，这支持了脑颅皮肤脂肪瘤病可能是变形综合征一种更具局限性表现的观点。几种生长因子的局部触发是该综合征一个具有挑战性的发病机制考量因素。
