SKELETAL FINDINGS IN MARINESCO-SJOGREN SYNDROME

Subjective. To describe the appearance and frequency of skeletal abnor malities associated with the Marinesco-Sjogren syndrome of cerebellar ataxia, congenital cataracts, mental and physical retardation and myop athy. Subjects and methods. Seventeen individuals affected with the di sorder, of common ancestry and marked consanguinity, were found in an isolated area in southwest Alabama; 11 were available for radiologic e xamination of parts of the skeleton. The range and frequency of skelet al abnormalities thus demonstrated were tabulated. Results and conclus ion. A constellation of cranial and extracranial skeletal abnormalitie s - including a small posterior fossa, spinal abnormalities, gracile b ones, elbow and hip valgus and asymmetric metacarpal and metatarsal sh ortening - can lead the radiologist or orthopaedist to suggest the dia gnosis, especially if appropriate neurological/neuroradiological findi ngs also are present.