Snapshot diagnosis: syndromes, facies and heart disease.
In some syndromes the facial appearance of the patients is so typical that a correct diagnosis can be made 'à vue'. The five cases presented here are examples of this statement and the additional clinical data make it possible to decide on the syndromes and the complicating cardiac anomalies.
D000293:Adolescent; D001017:Aortic Coarctation / Q000175:diagnosis; D001024:Aortic Valve Stenosis / Q000175:diagnosis; D002037:Bundle-Branch Block / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006343:Heart Septal Defects / Q000175:diagnosis; D006801:Humans; D006934:Hypercalcemia / Q000175:diagnosis; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D008944:Mitral Valve Insufficiency / Q000175:diagnosis; D009083:Mucopolysaccharidoses / Q000175:diagnosis; D010826:Physiognomy; D013577:Syndrome; D014424:Turner Syndrome / Q000175:diagnosis