Faculty of Medicine, Department of Radiology, Uludag University, Gorukle, Turkey.
Pediatr Radiol. 2010 Mar;40(3):348-52. doi: 10.1007/s00247-009-1444-x. Epub 2009 Dec 18.
We present a case of Kniest dysplasia, a rare form of the type II collagenopathies, with prenatal MRI. Sonography revealed only short limbs in the fetus. Fetal MRI findings included enlarged hyaline cartilaginous structures with abnormally high T2 signal intensity, delayed ossification of the pubic and ischial bones, and platyspondyly. By delineating the cartilaginous abnormalities, fetal MRI can contribute to the prenatal diagnosis of chondrodysplasias.
我们呈现了一例 Kniest 发育不良,这是 II 型胶原病的一种罕见形式,采用了产前 MRI。超声检查仅显示胎儿四肢短小。胎儿 MRI 检查结果包括透明软骨结构增大,T2 信号强度异常增高,耻骨和坐骨骨化延迟,以及扁平椎骨。通过描绘软骨异常,胎儿 MRI 有助于软骨发育不良的产前诊断。