Tieder M, Manor H, Peshin J, Alon U S
Pediatric Nephrology Unit, Assaf Harofeh Medical Center, Zerifin, Sackler Faculty of Medicine, Tel Aviv University, Israel.
Pediatr Radiol. 1995;25(1):37-40. doi: 10.1007/BF02020841.
A 5-year-old girl presented with lower limb deformities, delayed ambulation, short stature, facial dysmorphism and scoliosis. Radiologic examination showed severe anterior and external bowing of the femurs and anterior and internal bowing of the tibia and fibula, with posterior and medial cortical thickening. Square iliac wings, horizontal sacrum and low-set L5 were also seen. The diagnosis of Weismann-Netter, Stuhl syndrome was established with the exclusion of abnormalities in mineral and vitamin D metabolism. This rare skeletal dysplasia should be included in the radiologic differential diagnosis of congenital deformities of the lower extremities.
一名5岁女童出现下肢畸形、行走延迟、身材矮小、面部畸形和脊柱侧弯。放射学检查显示股骨严重向前和向外弯曲，胫骨和腓骨向前和向内弯曲，伴有后侧和内侧皮质增厚。还可见方形髂骨翼、水平骶骨和低位L5。在排除矿物质和维生素D代谢异常后，确诊为魏斯曼 - 内特尔、斯图尔综合征。这种罕见的骨骼发育不良应纳入下肢先天性畸形的放射学鉴别诊断。
