Wilke A, Schmoll J
Pathologisches Institut, Fakultät für Klinische Medizin Mannheim, Universität Heidelberg.
Klin Padiatr. 1994 Mar-Apr;206(2):112-5. doi: 10.1055/s-2008-1046593.
Osteochondrodysplasias are hereditary dysfunctions of the enchondral ossification with a decreased longitudinal bone-growth. We describe the case of a female child which suffered from a short rib-polydactyly-syndrome, a localised form of a osteo-chondrodysplasia, and died at the age of nine months as a result of the typical complications of this disease.
骨软骨发育不良是软骨内成骨的遗传性功能障碍,伴有纵向骨生长减少。我们描述了一名患有短肋多指综合征(一种局限性骨软骨发育不良)的女童病例,该女童因该病的典型并发症于9个月大时死亡。