Neonatology pp 49-71 | Cite as

Congenital Malformations and Syndromes: Early Diagnosis and Prognosis in Neonatal Medicine

  • Giovanni CorselloEmail author
  • Mario Giuffrè
Reference work entry


Congenital malformations are defects of the morphogenesis of organs or body regions identified during intrauterine development or at birth. They may be isolated and single or multiple. Their global birth prevalence is about 2–3%. Congenital defects may be caused by genetic and/or environmental factors, acting singly or in combination. A deep knowledge of the family and pregnancy histories, of the congenital anomalies and/or dysmorphic features’ classification, as well as of the most appropriate cytogenetic and/or molecular genetic tests may facilitate the neonatologist to the newborn’s correct assessment and management.


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© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Sciences for Health Promotion and Mother and Child CareUniversity of PalermoPalermoItaly

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