Nogami H, Oohira A, Kuroyanagi M, Mizutani A
Teratology. 1986 Feb;33(1):1-7. doi: 10.1002/tera.1420330102.
The mechanism responsible for prenatal bowing of long bones was investigated based on the results of morphological observation and biochemical analysis of glycosaminoglycans of the autopsied bone from a newborn patient with classic campomelic dysplasia and the result of an experiment which produced a similar deformity in rat fetuses. An excised bone with postnatal bowing from a patient with osteogenesis imperfecta was also examined for comparison. In the case of campomelic dysplasia, marked hypertrophic change of the cambium layer of the periosteum at the concave side of the bone was noted. Parallel rays of the periosteal bone extended from the concave (posterior) side toward the apex of the bowing at the anterior side. Increased amounts and differences in composition of glycosaminoglycans were found in the diaphyseal bone on the concave side, suggesting the existence of bone with maturity retardation. In contrast, there were no such differences in the case with postnatal bowing and in the control. Congenital bowing of long bone in the patients with multiple malformations such as campomelic dysplasia is probably manifested as early as the cartilaginous model as the experimental result suggested.
基于对一名患有典型弯肢侏儒症的新生儿尸检骨的形态学观察结果、糖胺聚糖的生化分析结果以及在大鼠胎儿中产生类似畸形的实验结果，对产前长骨弯曲的机制进行了研究。还检查了一名成骨不全患者切除的产后弯曲骨，以作比较。在弯肢侏儒症的病例中，注意到骨凹侧骨膜的形成层有明显的肥大变化。骨膜骨的平行射线从凹侧（后侧）朝着前侧弯曲的顶点延伸。在凹侧的骨干中发现糖胺聚糖的量增加且组成存在差异，这表明存在成熟延迟的骨。相比之下，产后弯曲病例和对照中没有此类差异。如实验结果所示，患有多种畸形如弯肢侏儒症的患者长骨先天性弯曲可能早在软骨模型阶段就已表现出来。
