Erzen M, Stanescu R, Stanescu V, Maroteaux P
Clinical Centre Department of Gynecological Pathology, Ljubljana, Yugoslavia.
Ann Genet. 1988;31(3):144-50.
The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (Ellis-Van Creveld syndrome), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other skeletal abnormalities but with visceral malformations. The lesions were qualitatively similar in chondroectodermal dysplasia and SRP I: regular concave ossification line, short, slightly irregular columns, regularly dispersed hypertrophic chondrocytes. In SRP III, the ossification line was irregular and the hypertrophic cells had a discontinuous distribution in clusters. No amylase resistant PAS intracytoplasmic inclusions were found. Short, slightly or markedly irregular primary trabeculae, some of them with wide cartilaginous cores, tongue prolongations and islands of cartilage situated along the periost were found in chondroectodermal dysplasia, SRP I and III. The case of polydactyly without other skeletal abnormalities had a normal morphology of the growth plate. These data suggest that there is a relationship between chondroectodermal dysplasia and SPR type I, and that SRP type III is distinct from SRP type I.
对两例软骨外胚层发育不良（埃利斯-范克里维尔德综合征）、一例Ⅰ型短肋多指畸形（萨尔迪诺-努南综合征）、三例Ⅲ型短肋多指畸形（韦尔马-瑙莫夫综合征）以及一例无其他骨骼异常但有内脏畸形的多指畸形患者的长骨生长软骨进行了组织病理学研究。软骨外胚层发育不良和Ⅰ型短肋多指畸形的病变在性质上相似：骨化线规则凹陷，柱状结构短且稍不规则，肥大软骨细胞规则分散。在Ⅲ型短肋多指畸形中，骨化线不规则，肥大细胞呈簇状分布且不连续。未发现抗淀粉酶的PAS胞质内包涵体。在软骨外胚层发育不良、Ⅰ型和Ⅲ型短肋多指畸形中发现了短的、稍不规则或明显不规则的初级小梁，其中一些有宽的软骨核心、舌状延长部分以及沿骨膜分布的软骨岛。无其他骨骼异常的多指畸形病例生长板形态正常。这些数据表明软骨外胚层发育不良与Ⅰ型短肋多指畸形之间存在关联，且Ⅲ型短肋多指畸形与Ⅰ型不同。
