Involvement of the humerus in two generations with spondyloepiphyseal dysplasia

Uri Givon, S. Jay Kumar*, Charles I. Scott

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Children with spondyloepiphyseal dysplasia present with a disproportionate short stature, platyspondyly, scoliosis, coxa vara, and clubfeet. Extraskeletal manifestations such as retinal detachment and deafness have been reported. The authors report two patients, a mother and her daughter, aged 35 and 6 years, with findings of pseudarthrosislike lesions in the middiaphysis of both humeri. The mother had minimal symptoms that resolved spontaneously, and the child had no symptoms related to these lesions. The radiographs of the mother show complete remodeling of the lesion. The pseudarthrosislike lesion of the humerus may be one of the manifestations of spondyloepiphyseal dysplasia congentia. In time, the bone remodels completely. Because this is a relatively new radiographic finding, the authors suggest performing a radiograph of the humeri in patients with spondyloepiphyseal dysplasia congenita at least once during childhood.

Original languageEnglish
Pages (from-to)174-177
Number of pages4
JournalClinical Orthopaedics and Related Research
Volume366
DOIs
StatePublished - 1999
Externally publishedYes

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