Nedz'ved' M K
Arkh Patol. 1978;40(8):26-32.
Morphological changes in the brain were studied in 14 observations of defects of the prosencephalic group. These defects were shown to be of three kinds: prosencephaly, alobar prosencephaly, and holoprosencephaly, and to be due to partial or complete undivision of the cranial part of the medullary tube. The nature of these defects is heterogeneous. Most frequently prosencephalitic defects are due to autosomal aberrrations (trisomy 13 and 18, 13-q-, 18p-, triploidy), and may also be due to gene mutations. In cases of trisomy 13 these defects are regularly accompanied by structural disorders of cytoarchitectonics of the cortex of the end brain, cerebellum, and medulla, which may be important for differential diagnosis of prosencephaly of various etiologies.
在14例前脑组缺陷的观察中研究了大脑的形态学变化。这些缺陷表现为三种类型:前脑无裂畸形、半叶前脑无裂畸形和全前脑无裂畸形,是由于神经管颅部的部分或完全未分隔所致。这些缺陷的性质是异质性的。最常见的前脑缺陷是由于常染色体畸变(13三体和18三体、13号染色体长臂缺失、18号染色体短臂缺失、三倍体),也可能是由于基因突变。在13三体的病例中,这些缺陷常伴有端脑、小脑和延髓皮质细胞构筑的结构紊乱,这对于不同病因的前脑无裂畸形的鉴别诊断可能很重要。