Gripp K W, Scott C I, Nicholson L
Department of Pediatrics, Thomas-Jefferson University, Philadelphia, PA, USA.
Clin Dysmorphol. 1996 Oct;5(4):335-7.
A patient with Ellis-van Creveld (EvC) syndrome and bilateral duplication of the primary ulnar ossification center is presented. Abnormal ossification involving secondary ossification centers of the femur and tibia as well as duplication of primary ossification centers in the carpal bones are well described in EvC. No abnormality of ulnar ossification has been noted in patients with EvC or any other skeletal dysplasia. The occurrence of bilateral duplication of ulnar ossification centers extends the clinical findings of the EvC syndrome. The gap between the ossified areas could be misinterpreted as a fracture and thus lead to a suspicion of osteogenesis imperfecta prenatally or traumatic fracture postnatally.
本文报告了1例患有埃利斯-范克里维尔德综合征(EvC)且双侧原发性尺骨骨化中心重复的患者。在EvC综合征中,股骨和胫骨的继发性骨化中心出现异常骨化以及腕骨原发性骨化中心重复的情况已有详细描述。在患有EvC综合征或任何其他骨骼发育不良的患者中,未发现尺骨骨化异常。尺骨骨化中心双侧重复的出现扩展了EvC综合征的临床表现。骨化区域之间的间隙可能被误诊为骨折,从而在产前导致成骨不全的怀疑,或在产后导致外伤性骨折的怀疑。