Genuardi M, Dionisi-Vici C, Sabetta G, Mignozzi M, Rizzoni G, Cotugno G, Martini Neri M E
Istituto di Genetica Medica, Università Cattolica del S. Cuore, Rome, Italy.
Am J Med Genet. 1993 Aug 1;47(1):50-3. doi: 10.1002/ajmg.1320470111.
We report on a boy with several findings of the Meckel syndrome, such as hepatic fibrosis, polycystic kidneys, post-axial hexadactyly, and genital abnormalities, but a Dandy-Walker malformation rather an occipital meningocele. Progressive deterioration of renal function beginning at 37 months led to death at 43 months. Both Dandy-Walker malformation and survival to the fourth year are unusual findings in Meckel syndrome. This uncommon combination represents a further demonstration of the pleiotropy/heterogeneity of the cerebro-reno-digital syndromes.
我们报告了一名患有多种梅克尔综合征表现的男孩，如肝纤维化、多囊肾、轴后多指畸形和生殖器异常，但存在的是丹迪-沃克畸形而非枕部脑膜膨出。肾功能在37个月时开始进行性恶化，43个月时导致死亡。丹迪-沃克畸形和活到四岁在梅克尔综合征中都是不常见的表现。这种不常见的组合进一步证明了脑-肾-指综合征的多效性/异质性。
