Heselson N G, Cremin B J, Beighton P
Br J Radiol. 1977 Jul;50(595):473-82. doi: 10.1259/0007-1285-50-595-473.
Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. Affected individuals have a normal craniofacial appearance and the skeletal malformations do not become apparent until early childhood. Radiographic changes observed in 13 affected individuals include shortening of tubular bones, flaring of metaphyses, variable epiphyseal maldevelopment and some degree of vertebral end-plate malformation. Diagnostic precision is essential for effective management and genetic counselling.
假性软骨发育不全是一种遗传性骨骼发育异常疾病，侏儒症是其主要特征。患者颅面部外观正常，骨骼畸形在幼儿期之前并不明显。在13名患者中观察到的影像学变化包括管状骨缩短、干骺端增宽、不同程度的骨骺发育不良以及一定程度的椎体终板畸形。诊断准确性对于有效治疗和遗传咨询至关重要。
