Department of Paediatric Radiology, Son Dureta Children's Hospital, Palma de Mallorca, Spain.
Pediatr Radiol. 2010 Aug;40(8):1426-9. doi: 10.1007/s00247-010-1551-8. Epub 2010 Feb 24.
Skeletal findings in infants with Menkes disease, the most characteristic of which are metaphyseal spurs, long-bone fractures and wormian bones, have been widely reported. However, the changes in skeletal features over time are not well known. The long-term findings differ completely from those initially observed and consist of undertubulation and metaphyseal flaring, similar to the findings seen in some types of bone dysplasia. The initial and long-term radiological features in an 8-year-old boy with Menkes disease are illustrated.
梅肯斯凯因氏病（Menkes disease）患儿骨骼表现广为人知，其中最具特征性的是干骺端骨刺、长骨骨折和脑回状骨。然而，骨骼特征随时间的变化尚不明确。长期的发现与最初观察到的完全不同，包括管状发育不良和干骺端增宽，类似于某些类型骨发育不良的表现。本文展示了一名 8 岁梅肯斯凯因氏病患儿的初始和长期影像学特征。
