title: Melorheostosis: unusual presentation in a girl.
abstract: Melorheostosis is a rare bone disease of unknown etiology. It is characterized by tense and erythematous skin, contractures and shortening of the affected limbs. Radiographs reveal hyperostosis in long bones resembling melting wax, and spotty or patchy endostic deposits in short bones. An 11-year-old girl showed, since birth, contractural deformities in the right hand without bone abnormalities. At the age of 12 months, she complained of soft tissue tightness in the right buttock. At 3 years, limitation of flexion and extension of the right knee was evident. Radiographs revealed findings typical of melorheostosis.
authors.affiliation: División de Genética, CIBO-IMSS, Sierra Mojada 800, Col. Independencia, CP 44340, AP 1-3838 Guadalajara, Jalisco, Mexico.
authors.forename: Rocío P
authors.initials: RP
authors.lastname: Mariaud-Schmidt
authors.forename: Wadih Emilio
authors.initials: WE
authors.lastname: Bitar
authors.forename: Francisco
authors.initials: F
authors.lastname: Pérez-Lamero
authors.forename: Patricio
authors.initials: P
authors.lastname: Barros-Nuñez
mesh_terms: D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D003286:Contracture / Q000209:etiology; D003937:Diagnosis, Differential; D005260:Female; D006227:Hand Deformities, Acquired / Q000209:etiology; D006801:Humans; D008557:Melorheostosis / Q000150:complications / Q000000981:diagnostic imaging*; D011859:Radiography