Skip to main content

Embryological Basis of Congenital Anomalies

  • Chapter
  • First Online:
Clinical Embryology
  • 2744 Accesses

Abstract

The normal developmental processes hold the key to our understanding of the biological basis of congenital anomalies. It is remarkable to note how a single fertilized cell, the zygote, undergoes sequential cell divisions followed by coordinated cell proliferation, migration and differentiation, to create something as intricately complex as a human foetus [1]. Interestingly, the various stages of the human embryonic development (see Table 6.1) share homologous developmental trajectories with other vertebrates [1].

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 189.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 249.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Moore KL, Persaud TVN, Torche MG. The developing human: clinically oriented embryology. 10th ed. Philadelphia: Elsevier; 2015.

    Google Scholar 

  2. Gilbert-Barness E, Debich-Spicer D. The human embryo and growth disorganization. In: Gilbert-Barness E, Debich-Spicer D, editors. Embryo and fetal pathology: color atlas with ultrasound correlation. Cambridge: Cambridge University press; 2004. p. 1–22.

    Chapter  Google Scholar 

  3. Maitra A. Genetic and pediatric diseases. In: Kumar V, Abbas AK, Aster JC, editors. Robbins basic pathology 9e. Philadelphia: Elsevier; 2013. p. 243–98.

    Google Scholar 

  4. Ochando I, Vidal V, Gascón J, Acién M, Urbano A, Rueda J. Prenatal diagnosis of X-linked hydrocephalus in a family with a novel mutation in L1CAM gene. J Obstet Gynaecol. 2016;36(3):403–5.

    Article  CAS  Google Scholar 

  5. Yoon PW, Freeman SB, Sherman SL, Taft LF, Gu Y, Pettay D, Flanders WD, Khoury MJ, Hassold TJ. Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of chromosomal error: a population-based study. Am J Hum Genet. 1996;58(3):628–33.

    CAS  PubMed  PubMed Central  Google Scholar 

  6. Boyarchuk O, Volyanska L, Dmytrash L. Clinical variability of chromosome 22q11.2 deletion syndrome. Cent Eur J Immunol. 2017;42(4):412–7.

    Article  Google Scholar 

  7. Peters J. The role of genomic imprinting in biology and disease: an expanding view. Nat Rev Genet. 2014;15(8):517–30.

    Article  CAS  Google Scholar 

  8. Allen VM, Armson BA, Committee G, Committee MFM. Teratogenicity associated with pre-existing and gestational diabetes. J Obstet Gynaecol Can. 2007;29(11):927–34.

    Article  Google Scholar 

  9. Sulik KK. Fetal alcohol spectrum disorder: pathogenesis and mechanisms. Handb Clin Neurol. 2014;125:463–75.

    Article  Google Scholar 

  10. Opitz JM. The developmental field concept. Am J Med Genet. 1985;21(1):1–11.

    Article  CAS  Google Scholar 

  11. Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C, Tibboel D, Reutter H, Giampietro PF. Clinical geneticists views of VACTERL/VATER association. Am J Med Genet A. 2012;158A(12):3087–100.

    Article  Google Scholar 

  12. Noramly S, Pisenti J, Abbott U, Morgan B. Gene expression in the limbless mutant: polarized gene expression in the absence of Shh and an AER. Dev Biol. 1996;179(2):339–46.

    Article  CAS  Google Scholar 

  13. Geister KA, Camper SA. Advances in skeletal dysplasia genetics. Annu Rev Genomics Hum Genet. 2015;16:199–227.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2019 Springer International Publishing AG, part of Springer Nature

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Annavarapu, S. (2019). Embryological Basis of Congenital Anomalies. In: Carachi, R., Doss, S. (eds) Clinical Embryology. Springer, Cham. https://doi.org/10.1007/978-3-319-26158-4_6

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-26158-4_6

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-26156-0

  • Online ISBN: 978-3-319-26158-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics