Clinical Syndromes

A number of congenital and endocrine diseases have characteristic general features amenable to spot diagnoses: but such changes also occur at the extremes of normality, thus be aware of the danger of jumping to false conclusions. Congenital examples include Downs, Turner’s and Marfan’s syndromes, achondroplasia and hereditary telangiectasia. Endocrine abnormalities include acromegaly (figure 6). Cushing’s disease, myxedema and thyrotoxicosis. Other spot diagnoses are Paget’s disease, Parkinson’s and myopathies. General disease states include weight loss, dehydration, edema, and the features of hepatic and renal failure.