Long-term skeletal findings in Menkes disease
Long-term skeletal findings in Menkes disease
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DOI：
10.1007/s00247-010-1551-8
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发表时间：
2010-08-01
影响因子：
2.3
通讯作者：
Enriquez, Goya
中科院分区：
文献类型：
--
作者：
Amador, Eva;Domene, Ruth;Enriquez, Goya
Menkes病婴儿的骨骼表现已被广泛报道，其中最具特征的是干骺端骨刺、长骨骨折和蠕虫骨。然而，骨骼特征随时间的变化并不为人所知。长期结果与最初观察到的结果完全不同，包括骨质疏松和干骺端外展，与某些类型骨发育不良的结果相似。初步和长期的放射学特征，在一个8岁的男孩与门克斯氏病的说明。
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.