Williams B
Br J Surg. 1977 Jan;64(1):70-3. doi: 10.1002/bjs.1800640117.
A case of a rare, non-familial, generalized, congenital, osseous dysplasia is described with features which have previously been described under the name 'acro-osteolysis'. Basilar invagination followed defective bone formation in the skull and this produced occipital headache and progressive neurological deterioration with involvement of the lower cranial nerves and cerebellar function. Hydrocephalus and valvular impaction of the cerebellum in the foramen magnum were demonstrated. Partial relief was obtained by foramen magnum decompression; death supervened from infection and respiratory inadequacy at the age of 20.
本文描述了一例罕见的、非家族性的、全身性先天性骨发育异常病例，其特征与先前以“肢端骨质溶解症”之名描述的情况相符。颅骨基底陷入症继发于颅骨骨形成缺陷，导致枕部头痛以及下颅神经和小脑功能受累，进而出现进行性神经功能恶化。影像学显示存在脑积水以及小脑在枕骨大孔处的瓣膜样嵌顿。枕骨大孔减压术使症状得到部分缓解；患者于20岁时因感染和呼吸功能不全死亡。
