title: Brief clinical report: skeletal dysplasia with short, angulated femora (kyphomelic dysplasia).
abstract: We report on an infant with broad and severely angulated short femora as the most salient manifestation of a generalized skeletal dysplasia. Other findings include congenital bowing of other long bones, narrow thorax, platyspondyly, micrognathia, and skin dimples. A marked improvement of the bowing and of the irregular flare of the metaphyses was noted over a period of 6 mo. Congenital bowing of long bones can be an isolated finding or associated with other anomalies, so the purpose of reporting all cases is important for further nosologic and pathogenetic elucidation. Because of the severity of the femoral involvement, the condition has been called kyphomelic dysplasia. It may be an autosomal recessive trait. recessive trait.
mesh_terms: D001848:Bone Diseases, Developmental / Q000235:genetics*; D003878:Dermatoglyphics; D005269:Femur / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male