Herzberg A J, Effmann E L, Bradford W D
Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710.
Am J Med Genet. 1988 Apr;29(4):883-90. doi: 10.1002/ajmg.1320290420.
We report on a 20-week fetus with manifestations similar, but not identical, to those of atelosteogenesis. The present fetus had rhizomelic micromelia with absence of ossification in the humerus, radius, ulna, and cervical and upper thoracic vertebral bodies; coronal clefts in the ossified thoracic vertebral bodies; and talipes equinovarus. The physes were relatively normal on histologic examination.
我们报告了一例20周大的胎儿，其表现与骨发育不全相似但不完全相同。该胎儿有近侧短小肢端侏儒症，肱骨、桡骨、尺骨以及颈椎和上胸椎椎体均无骨化；已骨化的胸椎椎体有冠状裂；还有马蹄内翻足。组织学检查显示生长板相对正常。
