Metaphyseal dysostosis, conductive hearing loss and mental retardation: a recessively inherited syndrome.
These brothers, the offspring of a consanguineous mating, were found to have short-limbed dwarfism, metaphyseal dysostosis, conductive hearing loss and mild mental retardation. This syndrome, which appears to be inherited as an autosomal recessive trait, is distinct from the previously described forms of metaphyseal dysostosis.
D000293:Adolescent; D002648:Child; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010009:Osteochondrodysplasias / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D013577:Syndrome