Researches

Genetic approach to common congenital anomalies in pediatric surgery

10.5350/BTDMJB201309301

  • Asude Durmaz
  • Burak Durmaz
  • Emin Karaca
  • Orkan Ergün
  • Özgür Çoğulu

Received Date: 27.04.2012 Accepted Date: 25.07.2013 Med J Bakirkoy 2013;9(3):91-104

Congenital anomalies which occur 3-4% of births are developmental defects and are important cause of perinatal mortality and morbidity. When considering these anomalies in the newborn period or later, first they should be classified and possible treatment options should be reviewed promptly. At this stage, Pediatric Surgery Departments serve and contribute to the correction of these abnormalities. On the other hand, genetic services are important not only for the identification of genetic syndromes by dysmorphic examination but also for providing genetic counseling for families having possible risks and planning future pregnancies. In this review, the most common congenital anomalies in pediatric surgery were discussed as well as their genetic basis, diagnosis, prognosis and treatment options in the light of up-to-date literature.

Keywords: Congenital anomaly, pediatric surgery, genetics, genetic counseling