title: An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia.
abstract: We present a child with irregular ossification of tubular bone epiphyses, short bones, and spine. The radiographic evolution of bones undergoing endochondral ossification was followed from the age of 1 year 9 months to 6 years. The unusual features demonstrated in this child made classification difficult: pseudoachondroplasia was excluded because no mutations of the COMP gene were found. Considering the evolution of the radiographic appearances, the most likely diagnosis would seem to be an unusual form of spondyloepiphyseal dysplasia, mimicking some aspects of multiple epiphyseal dysplasia. Endochondral ossification was diffusely altered with a mixture of epiphyseal ossification delay associated with acceleration and early fusion. This case was a unique presentation within the family, suggesting a mutation in the affected child.
authors.affiliation: Department of Orthopaedics and Traumatology, University of Brescia Medical School, Piazzale Spedali Civili no. 1, Brescia, BS 25123, Italy. ortopedia2@spedalicivili.brescia.it
authors.forename: Ugo Ernesto
authors.initials: UE
authors.lastname: Pazzaglia
authors.forename: Giampiero
authors.initials: G
authors.lastname: Beluffi
authors.forename: Guido
authors.initials: G
authors.lastname: Zarattini
mesh_terms: D002348:Carpal Bones / Q000002:abnormalities / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009999:Ossification, Heterotopic / Q000000981:diagnostic imaging*; D010009:Osteochondrodysplasias / Q000151:congenital / Q000000981:diagnostic imaging*; D011859:Radiography; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging*