Brown D M, Bradford D S, Gorlin R J, Desnick R J, Langer L O, Jowsey J, Sauk J J
J Pediatr. 1976 Apr;88(4 Pt 1):573-80. doi: 10.1016/s0022-3476(76)80009-1.
The acro-osteolysis syndrome consists of dissolution of terminal phalanges of the hands and feet, dolichocephaly with multiple wormian bones, delayed closure of cranial sutures, absence of frontal sinuses, a prominent occipital ridge, skeletal demineralization, vertebral and extremity fractures, joint laxity, and coarse hair. Studies of bone morphology reveal diminished bone density and bone formation. Osteoblasts have widely dilated smooth endoplasmic reticulum. It is postulated that an abnormality of a structural protein is the pathogenic basis of this disease.
肢端骨质溶解综合征包括手足末端指（趾）骨溶解、长头畸形伴多发缝间骨、颅缝闭合延迟、额窦缺如、枕嵴突出、骨骼脱矿质、椎骨和四肢骨折、关节松弛以及毛发粗糙。骨形态学研究显示骨密度和骨形成降低。成骨细胞的滑面内质网广泛扩张。据推测，一种结构蛋白异常是该疾病的致病基础。
