Scherrer C C, Hammer F, Schinzel A, Briner J
Institute of Clinical Pathology, University of Zurich, Switzerland.
Pediatr Pathol. 1992 May-Jun;12(3):469-76. doi: 10.3109/15513819209023327.
Iniencephaly is a rare, lethal, axial dysraphic malformation complex diagnosed on the basis of three cardinal features: deficiency of the occipital bone, cervicothoracic spinal retroflexion, and rachischisis. The majority of the patients also have various associated viscerae malformations. An iniencephalic female fetus delivered at 35 5/7 weeks of gestation revealed severe anomalies of the central nervous system and the spine: the cerebellar vermis was hypoplastic, the medulla oblongata was flattened and broadened, and the cervical canal was widely patent dorsally. The thoracolumbar spinal cord had a duplicated central canal and lacked a dorsal fissure, representing a minor degree of diastematomyelia. The cervicothoracic spine showed severe bony anomalies including aplasia and fusion of vertebral bodies.
无脑儿是一种罕见的致死性轴向神经管闭合不全畸形综合征,其诊断基于三个主要特征:枕骨缺损、颈胸段脊柱后屈和脊柱裂。大多数患者还伴有各种内脏畸形。一名孕35 5/7周出生的无脑儿女胎显示出严重的中枢神经系统和脊柱异常:小脑蚓部发育不全,延髓扁平且增宽,颈段椎管背侧广泛开放。胸腰段脊髓有双中央管且无背侧裂隙,表现为轻度脊髓纵裂。颈胸段脊柱显示出严重的骨骼异常,包括椎体发育不全和融合。