Involvement of the humerus in two generations with spondyloepiphyseal dysplasia

Children with spondyloepiphyseal dysplasia present with a disproportionate short stature, platyspondyly, scoliosis, coxa vara, and clubfeet. Extraskel etal manifestations such as retinal detachment and deafness have been repor ted. The authors report two patients, a mother and her daughter, aged 35 an d 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 o f the mother show complete remodeling of the lesion. The pseudarthrosislike lesion of the humerus may be one of the manifestations of spondyloepiphyse al 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 con genita at least once during childhood.