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Congenital Malformations and Syndromes: Early Diagnosis and Prognosis

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Abstract

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. Diagnostic and therapeutic tools have allowed better identification of congenital malformations and have reduced long-term morbidity and mortality in affected patients. Because of increased life expectancy, congenital malformations today represent a major issue in health care because of the resources needed for multidisciplinary care.

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References

  1. Wiedemann HR, Kunze J, Dibbern H (1992) An atlas of clinical syndromes. A visual aid to diagnosis, 2nd edn. Wolfe Publishing, London

    Google Scholar 

  2. Twining P, McHugo JM, Pilling DW (2000) Textbook of fetal abnormalities. Churchill Livingstone, London

    Google Scholar 

  3. Donnai D, Winter RM (1995) Congenital malformation syndromes. Chapman & Hall Medical, London

    Google Scholar 

  4. Jones KL (1997) Smith’s recognizable patterns of human malformations. WB Saunders, Philadelphia

    Google Scholar 

  5. Smolkin T, Soudack M, Goldstein I et al (2008) Prune belly syndrome: expanding the phenotype. Clin Dysmorph 17:133–135

    Article  PubMed  Google Scholar 

  6. Botto LD, May K, Fernhoff PM et al (2003) A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112:101–107

    Article  PubMed  Google Scholar 

  7. Bhuiyan ZA, Klein M, Hammond P et al (2006) Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: the Dutch experience. J Med Genet 43:568–575

    Article  PubMed  CAS  Google Scholar 

  8. Schorry EK, Keddache M, Lanphear N et al (2008) Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet 146A:2512–2519

    Article  PubMed  CAS  Google Scholar 

  9. Tiecke F, Katzke S, Booms P et al (2001) Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24–40. Europ J Hum Genet 9:13–21

    Article  PubMed  CAS  Google Scholar 

  10. Ferrero GB, Baldassarre G, Delmonaco AG et al (2008) Clinical and molecular characterization of 40 patients with Noonan syndrome. Europ J Med Genet 51:566–572

    Article  Google Scholar 

  11. Gunay-Aygun M, Schwartz S, Heeger S et al (2001) The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 108:e92

    Article  PubMed  CAS  Google Scholar 

  12. Abu-Amero S, Monk D, Frost J et al (2008) The genetic aetiology of Silver-Russell syndrome. J Med Genet 45:193–199

    Article  PubMed  CAS  Google Scholar 

  13. Gorlin RJ, Cohen jr MM, Levin LS (1990) Syndromes of the head and neck. Oxford University Press, New York

    Google Scholar 

  14. Wassif CA, Maslen C, Kachilele-Linjewile S (1998) Mutations in the human sterol delta-7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet 63:55–62

    Article  PubMed  CAS  Google Scholar 

  15. Wilkie AOM, Slaney SF, Oldridge M et al (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 9:165–172

    Article  PubMed  CAS  Google Scholar 

  16. Doherty ES, Lacbawan F, Hadley DW (2007) Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet 143A:3204–3215

    Article  PubMed  CAS  Google Scholar 

  17. Dixon MJ (1996) Treacher Collins syndrome. Hum Molec Genet 1996:1391–1396

    Google Scholar 

  18. Mansour S, Offiah AC, McDowall S et al (2002) The phenotype of survivors of campomelic dysplasia. J Med Genet 39:597–602

    Article  PubMed  CAS  Google Scholar 

  19. Bodian DL, Chan T-F, Poon A et al (2009) Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. Hum Molec Genet 18:463–471

    Article  PubMed  CAS  Google Scholar 

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Corsello, G., Giuffrè, M. (2012). Congenital Malformations and Syndromes: Early Diagnosis and Prognosis. In: Buonocore, G., Bracci, R., Weindling, M. (eds) Neonatology. Springer, Milano. https://doi.org/10.1007/978-88-470-1405-3_6

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  • DOI: https://doi.org/10.1007/978-88-470-1405-3_6

  • Publisher Name: Springer, Milano

  • Print ISBN: 978-88-470-1404-6

  • Online ISBN: 978-88-470-1405-3

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