Cincinnati P, Neri M E, Valentini A
Sez.ne di Pediatria, Ospedale E.De Santis, Genzano di Roma, Italy.
Clin Dysmorphol. 2000 Jan;9(1):35-8. doi: 10.1097/00019605-200009010-00007.
We report a fetus affected by Meckel-Gruber syndrome whose phenotype was characterized by macrocephaly, frontal bossing, a saddle nose, marked micrognathia, a distended abdomen, omphalocele, post-axial polydactyly and talipes equinovarus. The main neuropathological finding at autopsy was in a very large cyst located in an abnormally wide posterior cranial fossa consistent with a Dandy-Walker anomaly. Intestinal malrotation, enlarged cystic dysplastic kidneys and hepatic portal fibrosis coexisted. The occurrence of a Dandy-Walker malformation in Meckel-Gruber syndrome confirms a disturbance in rhombencephalon development. Although uncommon, it should be included among the central nervous anomalies representative of the syndrome.
我们报告了一例受梅克尔-格鲁伯综合征影响的胎儿，其表型特征为巨头畸形、额部隆起、鞍鼻、明显小颌畸形、腹部膨隆、脐膨出、轴后多指畸形和马蹄内翻足。尸检时主要的神经病理学发现是位于异常宽阔的后颅窝内的一个非常大的囊肿，符合丹迪-沃克畸形。同时存在肠旋转不良、增大的囊性发育不良肾和肝门纤维化。梅克尔-格鲁伯综合征中丹迪-沃克畸形的出现证实了菱脑发育的紊乱。虽然不常见，但它应被列入该综合征所代表的中枢神经系统异常之中。
