title: Mesomelic dysplasia with short ulna, long fibula, brachymetacarpy, and micrognathia. Clinical and radiological differential diagnostic features.
abstract: A girl with a "new" variant of mesomelic dysplasia is reported. The disorder is characterized by mesomelic brachymely, especially of the arms, a short ulna, relatively long fibula, brachymetacarpy, minor symmetrical changes at the hands, developmental arrest of the spine, contractures, and micrognathia. The clinical and radiological differential diagnostic features are discussed.
mesh_terms: D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging*; D005260:Female; D005360:Fibula / Q000000981:diagnostic imaging*; D006801:Humans; D007231:Infant, Newborn; D008663:Metacarpus / Q000000981:diagnostic imaging*; D008844:Micrognathism / Q000000981:diagnostic imaging*; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging*; D013577:Syndrome; D014457:Ulna / Q000000981:diagnostic imaging*