Mayatepek E, Kurczynski T W, Ruppert E S, Hennessy J R, Brinker R A, French B N
Department of Pediatrics, Medical College of Ohio, Toledo 43699.
Am J Med Genet. 1989 Mar;32(3):402-6. doi: 10.1002/ajmg.1320320327.
Here we report on a boy who died at 16 1/2 months with hemihypertrophy, eye abnormalities, macrodactyly, hamartomas, pigmented nevi, cerebral involvement, and other anomalies compatible with the Proteus syndrome. In addition, he also had abnormalities previously unreported in the Proteus syndrome including craniosynostosis and complex congenital heart defects. He seems to represent an extremely severe form of the Proteus syndrome and expands the already broad range of the phenotype.
在此，我们报告一名16个半月大的男孩，他患有半侧肥大、眼部异常、巨指（趾）症、错构瘤、色素痣、脑部受累以及其他与变形综合征相符的异常情况。此外，他还存在变形综合征中此前未报告的异常，包括颅缝早闭和复杂的先天性心脏缺陷。他似乎代表了变形综合征的一种极其严重的形式，并扩展了已经很广泛的表型范围。
