Mégarbané André, Haddad Joseph, Lyonnet Stanislass, Clayton-Smith Jill
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
Am J Med Genet A. 2003 Jan 15;116A(2):184-7. doi: 10.1002/ajmg.a.10705.
We report a male patient with increased birth weight and growth, cutis marmorata, macrocephaly, large hands and feet, thick subcutaneous tissues, postaxial polydactyly, linear skin hyperpigmentation following the lines of Blaschko, and intestinal lymphangiectasia. Although the findings resemble the recently defined macrocephaly cutis marmorata syndrome, some findings suggest that this might be a new disorder. Differential diagnosis are discussed, with a review of the literature.
我们报告了一名男性患者，其出生体重增加且生长迅速，有大理石样皮肤、巨头畸形、手足粗大、皮下组织增厚、轴后多指畸形、沿布拉斯科线的线状皮肤色素沉着以及肠道淋巴管扩张。尽管这些表现类似于最近定义的巨头畸形大理石样皮肤综合征，但一些表现提示这可能是一种新的疾病。本文讨论了鉴别诊断，并对文献进行了综述。
