Gardner W J
Childs Brain. 1979;5(4):361-79. doi: 10.1159/000119832.
Bony anomalies encountered in the 'no neck' form of Klippel-Feil syndrome (KFS) are a wide, short, fused, bifid, retroflexed spinal canal; craniolacunia, cranium bifidum, and acrania. The only symptom may be mirror movement (MM). The CNS anomalies are hindbrain hernia, hydrocephalus, hydromyelia, syringomyelia, meningocele, myelocele, encephalocele, and anencephalus. In severe KFS, i.e. iniencephalus (IN) and in anencephalus (AN), the inion is in contact with the back. In both there is hindbrain hernia and the left thorax may contain the stomach tethered to an anterior spina bifida. KFS results from distortion of somites by an overdistended neural tube. A neural tube that fails to close cannot overdistend.
在Klippel-Feil综合征（KFS）的“无颈”型中遇到的骨骼异常包括椎管宽、短、融合、分叉、后屈；颅骨凹陷、颅骨裂和无脑畸形。唯一的症状可能是镜像运动（MM）。中枢神经系统异常包括后脑疝、脑积水、脊髓积水、脊髓空洞症、脊膜膨出、脊髓脊膜膨出、脑膨出和无脑畸形。在严重的KFS中，即枕部脊柱裂畸形（IN）和无脑畸形（AN）中，枕外隆凸与背部接触。两者均存在后脑疝，左胸腔可能包含与前脊柱裂相连的胃。KFS是由过度扩张的神经管导致体节变形引起的。未能闭合的神经管无法过度扩张。
