Piepkorn M, Karp L E, Hickok D, Wiegenstein L, Hall J G
Teratology. 1977 Dec;16(3):345-50. doi: 10.1002/tera.1420160315.
A case of severe lethal neonatal dwarfism is reported. It appears to be a new variety of short rib-polydactyly dwarfism. It is characterized by severe lack of ossification of all bones except the clavicle and the presence of cleft palate, as well as genitourinary, central nervous system and cardiovascular anomalies. Electronmicroscopy revealed accumulations of granular material in the chondrocytes.
报告了一例严重致死性新生儿侏儒症病例。它似乎是短肋多指侏儒症的一种新类型。其特征是除锁骨外所有骨骼严重缺乏骨化,伴有腭裂,以及泌尿生殖系统、中枢神经系统和心血管系统异常。电子显微镜检查显示软骨细胞中有颗粒物质积聚。