Long-term skeletal findings in Menkes disease

Abstract

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… (More)
DOI: 10.1007/s00247-010-1551-8

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