title: 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 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.
authors.affiliation: Department of Paediatric Radiology, Son Dureta Children's Hospital, Palma de Mallorca, Spain.
authors.forename: Eva
authors.initials: E
authors.lastname: Amador
authors.forename: Ruth
authors.initials: R
authors.lastname: Domene
authors.forename: Cristian
authors.initials: C
authors.lastname: Fuentes
authors.forename: Juan-Carlos
authors.initials: JC
authors.lastname: Carreño
authors.forename: Goya
authors.initials: G
authors.lastname: Enríquez
mesh_terms: D002648:Child; D005264:Femoral Fractures / Q000150:complications*; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000150:complications*