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A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.
This study presents seven cases of a rare but distinctive form ofspondyloepimetaphyseal dysplasia with joint laxity-leptodactylic orHall type to emphasize the characteristic clinical and radiologicalfindings.A multiinstitutional retrospective review was performed on sevenpatients. The patient population consisted of one family with anaffected mother and two siblings and four unrelated patients; therewere one adult, aged 40 years, and six children, ranging in age from 3to 12 years. The gender ratio of females to males was 5 to 2. Wereviewed the clinical data and skeletal surveys and focused onradiographs of the pelvis, knees, hands, and spine.The outstanding clinical features were short stature, midfacehypoplasia, and multiple dislocations and/or ligamentous laxity of thelarge joints, particularly at the knees with a genu valgum or varumdeformity. Of seven patients, six patients showed normal intellect butone patient had mild mental retardation. The main radiological featuresincluded small, irregular epiphyses, metaphyseal irregularity withvertical striations that was a constant finding at the knees,constricted femoral necks, delayed ossification of the carpal bones,and slender metacarpals. Progressive thoracolumbar scoliosis wasevident with aging; however, the vertebral bodies appeared normal inheight or mild platyspondyly was noted.In view of the orthopedic management of multiple joint dislocations andligamentous laxity of the large joints, awareness of this diseaseentity and diagnostic precision solely based on radiological findingsis of importance, particularly as the disorder is currently more commonthan initially reported.
Adult, Child, Child, Preschool, Female, Humans, Joint Instability/complications, Joint Instability/radiography, Male, Osteochondrodysplasias/complications, Osteochondrodysplasias/radiography
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