Oto-spondylo-megaepiphyseal dysplasia (OSMED).
Four personal longitudinal observations and two cases from the literature are used to introduce the concept of oto-spondylo-megaepiphyseal dysplasia (OSMED). The condition may be recognized at birth. The main clinical findings are sensoneurinal deafness, enlarged 1st interphalangeal joints of the hands, relative short extremities with abnormally large knees and elbows but still normal total body length. In the second decade of life, backpain and decreased mobility of the joints may follow. 4/6 patients had a cleft palate. The diagnostic radiological findings are the big epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. The occurrence of OSMED in two sisters suggests an autosomal-recessive transmission. No biochemical anomaly could be detected.
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D002648:Child; D003638:Deafness / Q000151:congenital*; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D011859:Radiography; D013557:Switzerland