Subramanian Subramanian, Gamanagatti Shivanand, Sinha Anindita, Sampangi Raju
Department of Radiodiagnosis, All India Institute of Medical Sciences, Ansari Nagar , New Delhi 110 029, India.
Indian Pediatr. 2007 Dec;44(12):931-3.
A 12-year-old male child presented with bilateral visual loss and short stature. He had dysmorphic faces, barrel shaped chest and short limbs with enlarged peripheral joints. In addition he had bilateral retinal detachment with secondary cataract formation. Skeletal survey revealed irregular platyspondyly, hypoplastic femoral head and enlarged epiphysis of long bones with cloud like calcification. Radiological features were diagnostic of Kniest syndrome. The child underwent pars plana lensectomy and a vitreo-retinal surgery with silicon oil infusion in the right eye for retinal detachment.
一名12岁男性儿童出现双侧视力丧失和身材矮小。他面容畸形，胸部呈桶状，四肢短小，外周关节肿大。此外，他还患有双侧视网膜脱离并继发白内障形成。骨骼检查显示椎体扁平不规则、股骨头发育不全以及长骨骨骺增大伴云雾状钙化。影像学特征可诊断为克尼斯特综合征。该患儿接受了扁平部晶状体切除术以及右眼视网膜脱离的玻璃体视网膜手术并注入硅油。
