Mazal P R, Schuhfried G, Budka H
Institute of Neurology, University of Vienna, Austria.
Acta Neuropathol. 1995;89(6):567-70. doi: 10.1007/BF00571513.
Little is known about the neuropathology of the median facial cleft syndrome, which presents as a combination of a wide range of teratological manifestations. We report a unique type of cerebral malformation combined with the median facial cleft syndrome in a 7-day-old female infant with malformations of toes and fingers, hypertelorism and a median cleft nose, as well as a frontally protruding, dorsomedian hornlike cele. At autopsy, the cranium presented facial clefts and bony defects, resulting in partitioning of the anterior cranial fossa into three compartments. The brain had malformative features of lobar holoprosencephaly combined with tripartition of frontal lobes, including an encephalomeningocystocele originating from a right accessory frontal lobe.
关于正中面部裂综合征的神经病理学所知甚少，该综合征表现为多种畸形学表现的组合。我们报告了一名7日龄女婴，患有独特类型的脑畸形并伴有正中面部裂综合征，同时还有脚趾和手指畸形、眼距过宽、正中裂鼻，以及额部突出的背正中角状膨出。尸检时，颅骨出现面部裂和骨缺损，导致前颅窝被分隔为三个腔室。脑部具有叶状全前脑畸形特征并伴有额叶三分，包括一个源自右侧副额叶的脑膨出。
