Beluffi G, Ometto A
Section of Paediatric Radiology, Department of Radiodiagnosis, Fondazione IRCCS, S. Matteo Policlinic, Pavia, Italy.
Minerva Pediatr. 2010 Feb;62(1):107-11.
A patient with a rare congenital lethal skeletal dysplasia characterised by thin gracile bones and fractures secondary to a neuromuscular disease is reported. This disease has to be differentiated with other thin, gracile bone disorders.
报告了一名患有罕见先天性致死性骨骼发育不良的患者,其特征为骨骼纤细脆弱,并继发于神经肌肉疾病的骨折。这种疾病必须与其他骨骼纤细脆弱的疾病相鉴别。