Gilbert E F, Opitz J M, Spranger J W, Langer L O, Wolfson J J, Viseskul C
Eur J Pediatr. 1976 Sep 1;123(2):89-109. doi: 10.1007/BF00442639.
Pathologic, ultrastructural and radiologic studies are described on 3 infants with the rhizomelic form of chondrodysplasia punctata. Radiologic criteria in the young infant include radiolucent coronal clefts dividing all or most of the thoracic and lumbar vertebral bodies, short humeri with flared metaphyses and punctate calcifications commonly present adjacent to the ossified ischial and pubic bones and less commonly in other locations. In late infancy and childhood the radiologic criteria include demineralization in all bones with slow maturation, flat vertebral bodies, short humeri and femora, metaphyseal flaring, especially in the distal humerus, proximal femur and proximal tibia, immature shape of pelvis, and disappearance of the punctate calcifications with advancing age. The histologic changes of the resting cartilage include areas of degenerating cartilage which had become partially calcified, cystic changes with severe disturbance of the maturation of the cartilage at the physial plate, and the formation of cancellous bone directly on resting cartilage. Ultrastructural changes are characterized by degeneration of chondrocytes, delicate collagenous fibrils without visible periodicity, and the presence of flocculent material within greatly distended endoplasmic reticulum.
本文描述了3例患有点状软骨发育异常的婴儿的病理、超微结构和放射学研究。婴儿期的放射学标准包括：透亮的冠状裂将全部或大部分胸腰椎椎体分开；肱骨短，干骺端增宽；点状钙化通常出现在坐骨和耻骨骨化部位附近，其他部位较少见。婴儿晚期和儿童期的放射学标准包括：所有骨骼脱矿，成熟缓慢；椎体扁平；肱骨和股骨短；干骺端增宽，尤其是远端肱骨、近端股骨和近端胫骨；骨盆形态不成熟；随着年龄增长，点状钙化消失。静止软骨的组织学变化包括：软骨退变区域部分钙化；生长板处软骨成熟严重紊乱，出现囊性变；松质骨直接在静止软骨上形成。超微结构变化的特征是软骨细胞退变、胶原纤维纤细无明显周期性，以及内质网极度扩张内出现絮状物质。
