Multiple exostoses--mental retardation (MEMR) syndrome: report of a case.
A MEMR syndrome occurred in a 9-year-old boy with cerebral atrophy and was established by computed tomography scans of the cranium. The patient had mental retardation, delayed speech development and microcephaly, and high levels of urinary dermatan sulfate and heparin sulfate, which are characteristics of this inborn error of mucopolysaccharide metabolism.
D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D005097:Exostoses, Multiple Hereditary / Q000150:complications* / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging; D006621:Hip Joint / Q000000981:diagnostic imaging; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D011859:Radiography; D013577:Syndrome