Metabolic disease of skeleton and inherited disorders
Keyword(s):
♦ Classic metabolic bone diseases include osteoporosis, osteomalacia, Paget’s disease, and parathyroid bone disease♦ Heritable disorders of the skeleton include numerous osteochrondrodysplasias, Marfan syndrome, and Ehlers-Danlos syndrome♦ Investigation of short stature is indicated for those below 0.4 percentile, with skeletal disproportion and/or progressive shortness♦ Genetic mutations for most of these conditions have been identified but clinical/radiographic features are usually diagnostic.