Bingel S A, Sande R D
Department of Comparative Medicine, School of Medicine, University of Washington, Seattle 98195.
J Am Vet Med Assoc. 1994 Sep 15;205(6):845-8.
Five disproportionate, short-limbed, short-trunked (dwarf) Great Pyrenees pups were examined. The mode of inheritance was compatible with a simple autosomal recessive trait, and skeletal radiography revealed flaring of the metaphyses of all long bones and the costochondral junctions of the ribs. Vertebral bodies were poorly ossified and short, and had a beak-like extension on the caudal metaphyseal margin. Vertebral body end-plates were thin and concave, and ossification was abnormal. Three of the 5 dogs were deaf, and 1 had testicular atrophy. Ocular examinations did not reveal any abnormalities. Histologic examination of the growth plates revealed disorganized chondrocyte columns, and chondrocytes appeared to have undergone degenerative changes in the zone of chondrocyte proliferation. Transmission electron micrography of growth plate chondrocytes revealed dilated profiles of rough endoplasmic reticulum.
对五只不成比例、四肢短小、躯干短小（侏儒）的大白熊幼犬进行了检查。遗传模式符合简单的常染色体隐性性状，骨骼X线摄影显示所有长骨的干骺端和肋骨的肋软骨连接处增宽。椎体骨化不良且短小，在尾侧干骺端边缘有喙状延伸。椎体终板薄且凹陷，骨化异常。5只狗中有3只失聪，1只睾丸萎缩。眼部检查未发现任何异常。生长板的组织学检查显示软骨细胞柱排列紊乱，软骨细胞在软骨细胞增殖区似乎发生了退行性变化。生长板软骨细胞的透射电子显微镜检查显示粗面内质网轮廓扩张。
