Kjaer I, Mygind H, Fischer Hansen B
Department of Orthodontics, School of Dentistry, University of Copenhagen, Denmark.
Am J Med Genet. 1999 Jun 11;84(5):425-32.
Iniencephaly is a central nervous system malformation in which brain and spinal cord are not normally separated at the level of the foramen magnum. The occipital region is fastened to the back of the body at different levels. The purpose of this study of a 16-week human fetus with iniencephaly and holoprosencephaly was to examine the body axis for notochordal remnants in order to determine if an abnormality of dorsoventral axis signaling may be responsible for the development of the iniencephaly abnormality. This aspect of iniencephaly has not been described previously. Radiographic and histochemical investigations were performed. The fetus described here appeared to exhibit an abnormal notochordal course in the upper lumbar, thoracic, and cervical regions. This finding leads us to the hypothesis that iniencephaly might arise because of deviant gene expression in the embryonic period affecting the dorsoventral orientation of the body axis, anatomically indicated by the notochordal malpositions.
无脑儿脊柱裂是一种中枢神经系统畸形，其中大脑和脊髓在枕骨大孔水平处未正常分离。枕部区域在不同水平与身体后部相连。本研究对一名患有无脑儿脊柱裂和全前脑畸形的16周人类胎儿进行，目的是检查身体轴以寻找脊索残余物，以确定背腹轴信号异常是否可能是无脑儿脊柱裂畸形发展的原因。无脑儿脊柱裂的这一方面以前未曾描述过。进行了放射学和组织化学研究。此处描述的胎儿似乎在上腰椎、胸椎和颈椎区域表现出异常的脊索走行。这一发现使我们提出一个假设，即无脑儿脊柱裂可能是由于胚胎期基因表达异常影响身体轴的背腹方向所致，从解剖学角度看，这表现为脊索位置异常。
