Skeletal findings in Marinesco-Sjögren syndrome

To describe the appearance and frequency of skeletal abnormalities associated with the Marinesco-Sjögren syndrome of cerebellar ataxia, congenital cataracts, mental and physical retardation and myopathy. Seventeen individuals affected with the disorder, of common ancestry and marked consanguinity, were found in an isolated area in southwest Alabama; 11 were available for radiologic examination of parts of the skeleton. The range and frequency of skeletal abnormalities thus demonstrated were tabulated. A constellation of cranial and extracranial skeletal abnormalities-including a small posterior fossa, spinal abnormalities, gracile bones, elbow and hip valgus and asymmetric metacarpal and metatarsal shortening- can lead the radiologist or orthopaedist to suggest the diagnosis, especially if appropriate neurological/neuroradiological findings also are present.