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.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsReferences
Wiedemann HR, Kunze J, Dibbern H (1992) An atlas of clinical syndromes. A visual aid to diagnosis, 2nd edn. Wolfe Publishing, London
Twining P, McHugo JM, Pilling DW (2000) Textbook of fetal abnormalities. Churchill Livingstone, London
Donnai D, Winter RM (1995) Congenital malformation syndromes. Chapman & Hall Medical, London
Jones KL (1997) Smith’s recognizable patterns of human malformations. WB Saunders, Philadelphia
Smolkin T, Soudack M, Goldstein I et al (2008) Prune belly syndrome: expanding the phenotype. Clin Dysmorph 17:133–135
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
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
Schorry EK, Keddache M, Lanphear N et al (2008) Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet 146A:2512–2519
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
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
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
Abu-Amero S, Monk D, Frost J et al (2008) The genetic aetiology of Silver-Russell syndrome. J Med Genet 45:193–199
Gorlin RJ, Cohen jr MM, Levin LS (1990) Syndromes of the head and neck. Oxford University Press, New York
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
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
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
Dixon MJ (1996) Treacher Collins syndrome. Hum Molec Genet 1996:1391–1396
Mansour S, Offiah AC, McDowall S et al (2002) The phenotype of survivors of campomelic dysplasia. J Med Genet 39:597–602
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
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2012 Springer-Verlag Italia
About this chapter
Cite this chapter
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
Download citation
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
eBook Packages: MedicineMedicine (R0)