Thomas J A, Rimoin D L, Lachman R S, Wilcox W R
Department of Pediatrics, The Children's Hospital, University of Colorado School of Medicine, Denver, USA.
Am J Med Genet. 1998 Jan 6;75(1):95-100.
Gracile bones are a frequent abnormality associated with fetal hypokinesia of any cause. With the exception of thin, undermineralized bones, the chondro-osseous structure is usually normal in these cases. We present a lethal skeletal dysplasia comprising minor anomalies, central nervous system abnormalities, gracile long bones, and abnormal chondro-osseous morphology. In addition to a short, disordered growth plate, the chondrocytes contained dilated loops of rough endoplasmic reticulum, suggesting an abnormality of an extracellular matrix protein. This protein appears to have effects on chondro-osseous and on facial and central nervous system development. We suggest the term "gracile bone dysplasia" to describe this disorder.
纤细骨骼是与任何原因导致的胎儿运动减少相关的常见异常情况。除了骨骼纤细、矿化不足外,这些病例中的软骨-骨结构通常是正常的。我们报告了一种致死性骨骼发育异常,其特征包括轻微畸形、中枢神经系统异常、纤细的长骨以及异常的软骨-骨形态。除了短而紊乱的生长板外,软骨细胞含有扩张的粗面内质网环,提示细胞外基质蛋白存在异常。这种蛋白似乎对软骨-骨以及面部和中枢神经系统发育有影响。我们建议用“纤细骨发育异常”这一术语来描述这种疾病。