Bonnefoy O, Delbosc J M, Maugey-Laulom B, Lacombe D, Gaye D, Diard F
Service de Radiologie, Hôpital François Mitterrand, Pau, France.
Fetal Diagn Ther. 2006;21(1):18-21. doi: 10.1159/000089042.
We report the first case of sporadic hypochondroplasia diagnosed in utero by computed tomography (CT) three-dimensional (3D) imaging and molecular analysis at 38 weeks' gestation. Prenatal sonographic examinations performed at 32 and 35 weeks' gestation revealed a rhizomelic shortness of the long bones (femur and humerus) with macrocephaly. Based on these findings, a nonlethal form of skeletal dysplasia was suspected and a multislice CT imaging with 3D reconstruction was performed depicting skeletal abnormalities which suggested hypochondroplasia. The prenatal diagnosis was confirmed by DNA mutation analysis of the fibroblast growth receptor 3 gene.
我们报告了首例在妊娠38周时通过计算机断层扫描（CT）三维（3D）成像和分子分析在子宫内诊断出的散发性软骨发育不全病例。在妊娠32周和35周时进行的产前超声检查显示，长骨（股骨和肱骨）呈近侧短小并伴有巨头畸形。基于这些发现，怀疑是一种非致死性骨骼发育不良，并进行了具有三维重建功能的多层CT成像，显示出提示软骨发育不全的骨骼异常。通过对成纤维细胞生长因子3基因的DNA突变分析证实了产前诊断。
