[Syndromes 8. The diagnosis of congenital anomalies and syndromes].
In 2 to 3% of newborns a congenital anomaly is detected. About 20% of these have even multiple anomalies. After a short review on the classification of congenital anomalies a description of the diagnostic workup is given with emphasis on items which are different from the usual clinical practice: pregnancy history, family history, dysmorphologic examination, use of electronic databases and genetic/molecular investigations. The aim of this workup is to reach an etiologic diagnosis which is a prerequisite for both establishing prognosis and adequate therapy and genetic counseling.
Hamel
B C
BC
Afdeling Anthropogenetica, Academisch Ziekenhuis Nijmegen St. Radboud, Postbus 9101, 6500 HB Nijmegen.
D000013:Congenital Abnormalities / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D012017:Referral and Consultation; D012042:Registries
Syndromen 8. De diagnostiek van aangeboren afwijkingen en syndromen.