title: [Bone dysplasia with short limb].
abstract: We described the condition of the disease, clinical appearance, X-rays appearance, orthopaedic problems about Achondroplasia, Pseudoachondroplasia, Metaphyseal Chondrodysplasia (Schmid type) , Mesomelic dysplasia (Dyschondrosteosis) as a representative bone dysplasia who present a short stature with short limbs. Clinical features are almost evident at birth in the patient with Achondroplasia. However, in other cases, there is no specific finding on clinically and radiologically at birth. Clinical and radiological findings develop slowly from period for childhood. It is considered that the diagnosis is not difficult since each of them have characteristic clinical features and X-rays views, only if examining them carefully. Correct and rapid diagnosis would be important for having a good relationship with patients.
authors.affiliation: Kobe Children's Hospital, Department of Orthopaedic surgery, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Kobayashi
authors.forename: Shinichi
authors.initials: S
authors.lastname: Satsuma
mesh_terms: D001827:Body Height; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D064236:Cartilage Oligomeric Matrix Protein; D024121:Collagen Type X; D004392:Dwarfism / Q000209:etiology / Q000473:pathology; D004967:Estrogens; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005121:Extremities / Q000473:pathology*; D006023:Glycoproteins / Q000235:genetics; D018398:Homeodomain Proteins; D006801:Humans; D064235:Matrilin Proteins; D009154:Mutation; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D000074122:Short Stature Homeobox Protein
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D024121:Collagen Type X; D004967:Estrogens; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D018398:Homeodomain Proteins; D064235:Matrilin Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; C577553:TSP5 protein, human; C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3