Clinical diagnosis of malformation syndromes: syndromatology in paediatrics.
The term malformation syndrome should be retained for designation of characteristic symptom complexes of clear-cut pathogenesis. Classification of disorders into any of the three categories deformation, malformation respectively dysplasia or into any combination of them leads to better insight into morphological syndromes. Ten rules of the diagnostic procedure have been formulated and illustrated by the example of the Beckwith-Wiedemann syndrome. Disturbed organogenesis is usually accompanied by multiple signs of dysmorphy, a careful search for malformations is therefore desirable. In the case of malformation syndromes interfering with growth and development continuous care of the patient is indispensable.
D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis*; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008260:Macroglossia / Q000175:diagnosis; D008297:Male; D013577:Syndrome; D009626:Terminology as Topic