Dyschondrosteosis Associated with Endocrine Dysfunctions and Mental Deficiency

抄録

Dyschondrosteosis, also known as Lèri-Weill syndrome, is characterized by mesomelic dwarfism and Madelung's deformity. The association of this disorder with various endocrine, metabolic or intelligence abnormalities has not been described. We have, however, recently seen two such cases of dyschondro-steosis. One had goiter, diabetes mellitus, hydronephrosis and mental deficiency since childhood; the other had hyperthyroidism. Our observation suggests that dyschondrosteosis may not only be related to Madelung's deformity but also to various endocrine dysfunctions through genetic involvement.