Duff P, Harlass F E, Milligan D A
Division of Maternal-Fetal Medicine, Madigan Army Medical Center, Tacoma, Washington.
Obstet Gynecol. 1990 Sep;76(3 Pt 2):497-500.
The rhizomelic form of chondrodysplasia punctata is a lethal autosomal recessive disorder of unknown cause. It is characterized by marked shortening and bowing of the proximal limbs, vertebral column abnormalities, eye and skin defects, severe mental retardation, and recurrent infection. Previously, antenatal diagnosis of this condition was made by radiography. We describe ultrasonographic findings, specifically stippling of the proximal humerus, which permitted us to identify the condition in a fetus at 28 weeks' gestation.
点状软骨发育不良的肢根型是一种病因不明的致死性常染色体隐性疾病。其特征为近端肢体明显缩短和弯曲、脊柱异常、眼睛和皮肤缺陷、严重智力发育迟缓以及反复感染。以前，这种疾病的产前诊断是通过X线摄影进行的。我们描述了超声检查结果，特别是近端肱骨的点状表现，这使我们能够在妊娠28周时在胎儿中识别出这种疾病。
