Kirkpatrick D B, Rimoin D L, Kaitila I, Goodman S J
Surg Neurol. 1977 Apr;7(4):221-32.
The craniotubular bone modeling disorders are a group of skeletal dysplasias which involve predominantly the skull and long bones. The cranial involvement includes both external facial deformities and internal bony overgrowth about the cranial foramina and fissures. The latter commonly leads to cranial nerve compression, particularly of the optic nerve. Craniotomy and cranial nerve decompression can give substantial benefit to selected patients with these diseases but the severe bony abnormalities create technical problems which prevent surgery in some extreme cases. These disorders are genetically determined but the basic pathophysiologic mechanism has been delineated for only a few types and non-surgical treatment remains supportive.
颅管状骨塑形障碍是一组主要累及颅骨和长骨的骨骼发育异常疾病。颅骨受累包括面部外部畸形以及颅骨孔和裂隙周围的内部骨质过度生长。后者通常导致颅神经受压，尤其是视神经。开颅手术和颅神经减压术对部分患有这些疾病的患者可带来显著益处，但严重的骨质异常会产生技术问题，在某些极端情况下会阻碍手术进行。这些疾病由基因决定，但仅少数几种类型的基本病理生理机制已被阐明，非手术治疗仍以支持治疗为主。
