The Helena syndromes.
The author gives a personal account on how he was introduced to the field of clinical genetics as a student of John Opitz in Helena, MT. That process was facilitated by the study of several malformation syndromes. Particularly instructive were the approaches to the cardio-facio-cutaneous, the Perlman, and the FG syndrome. These three conditions are briefly revisited with a critical perspective, made possible by the elapse of 20 years, since the time when the author became acquainted with them.
Neri
Giovanni
G
Istituto di Genetica Medica, Facoltà di Medicina A. Gemelli, Università Cattolica del S. Cuore, Roma, Italy. gneri@rm.unicatt.it
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000266:history; D005145:Face / Q000002:abnormalities; D005320:Fetal Macrosomia / Q000235:genetics / Q000266:history; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000266:history; D005826:Genetics, Medical / Q000266:history; D006330:Heart Defects, Congenital / Q000235:genetics / Q000266:history; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D009009:Montana; D012868:Skin Abnormalities / Q000235:genetics / Q000266:history; D013577:Syndrome