B G Brogdon1, R D Snow, J P Williams. 1. Department of Radiology, University of South Alabama Medical Center, Mobile 36617, USA.
Abstract
OBJECTIVE: 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. SUBJECTS AND METHODS: 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. RESULTS AND CONCLUSION: 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.
OBJECTIVE: 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. SUBJECTS AND METHODS: 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. RESULTS AND CONCLUSION: 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.