Skip to main content
SpringerLink
Log in

Infantile and Neonatal Marfan Syndrome

  • Chapter
  • First Online:
Diagnosis and Management of Marfan Syndrome

  • 1791 Accesses

Abstract

Marfan syndrome may be diagnosed clinically at any time of life, with those most severely affected attracting medical attention in infancy (the first year of life) or even at birth (neonatal Marfan syndrome). Sometimes affected infants are from affected families that are already aware that they carry the Marfan gene, but most often, infants are affected as a result of a new mutation of the fibrillin-1 gene. Early recognition of the correct diagnosis can aid medical and surgical management, and genetic counselling.

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

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 129.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 179.99
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. Domingues R, Weisgaru RA, Santamaria M. Pulmonary hyperinflation and emphysema in infants with Marfan syndrome. Pediatr Radiol. 1987;17:365–9.

    Article  Google Scholar 

  2. Vasu V, Child AH, Modi N, Rutherford M, Cowan F. Neonatal Marfan. BMJ Case Rep. 2011. pii:bcr0620114328. doi: 10.1136/bcr.06.2011.4328.

    Google Scholar 

  3. Barnett CP, Wilson GJ, Chiasson DA, Gross GJ, Hinek A, Hawkins C, Chitayat D. Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene. Am J Med Genet A. 2010;152A(9):2409–12. doi:10.1002/ajmg.a.33406. No Abstract available.

    Article  PubMed  Google Scholar 

  4. Morse RP, Rockenmacher S, Pyeritz R, et al. Diagnosis and management of infantile Marfan syndrome. Paediatrics. 1990;86(6):888–95.

    CAS  Google Scholar 

  5. Amado M, Colado MA, Ferreira R, Lourenço T. Neonatal Marfan syndrome: a successful early multidisciplinary approach. BMJ Case Rep. 2014. Pii: bcr2013202438. doi:10.1136/bcr-2013-202438.

    Google Scholar 

  6. Meena JP, Gupta A, Mishra D, Juneja M. Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report. J Pediatr Orthop B. 2014;24(3):226–9.

    Article  Google Scholar 

  7. Booms P, Cisler J, Mathews KR, Godfrey M, Tiecke F, Kaufmann UC, Vetter U, Hage-Meier F, Robinson PN. Novel exon skipping mutation in the fibrillin-1 gene: two ‘hot spots’ for the neonatal Marfan syndrome. Clin Genet. 1999;55:110–7.

    Article  CAS  PubMed  Google Scholar 

  8. Geva T, Sander SP, Diogenes MS, et al. Two-dimensional and Doppler echocardiographic and pathologic characteristics of the infantile Marfan syndrome. Am J Cardiol. 1990;65(18):1230–7.

    Article  CAS  PubMed  Google Scholar 

  9. Buntix IM, Willems PJ, Spitaels SE, et al. Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency. J Med Genet. 1991;28(4):267–73.

    Article  Google Scholar 

  10. Bresters D, Nikkels PG, Meijboom EJ, et al. Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome. Acta Paediatr. 1999;88(1):98–101.

    Article  CAS  PubMed  Google Scholar 

  11. Pees C, Michel-Behnke I, Hagl M, Laccone F. Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations. Clin Genet. 2014;86(6):552–7. doi:10.1111/cge12314. Epub 2013 Dec 4.

    Article  CAS  PubMed  Google Scholar 

  12. Kielty CM, Phillips J, Child AH, et al. Fibrillin secretion and microfibril assembly by Marfan dermal fibroblasts. Matrix Biol. 1994;14:141–99.

    Article  Google Scholar 

  13. Horn D, Robinson PN. Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. Am J Med Genet A. 2011;155A(4):721–4. doi:10.1002/ajmg.a.33905. Epub 2011 Mar 15.

    Article  PubMed  Google Scholar 

  14. Jaoquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, Kornak U, Lebrun F, Lombet J, Piérard GE, Robinson PN, Symoens S, Van Maldergem L, Debray FG. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3’ end of FBN1 gene. Eur J Med Genet. 2014;57(5):230–4. doi:10.1016/j.ejmg.2014.02.012. Epub 2014 Mar 6.

    Article  Google Scholar 

  15. Arslan-Kirchner M, Arbustini E, Boileau C, Child A, Collod-Beroud G, De Paepe A, Epplen J, Jondeau G, Loeys B, Faivre L. Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]. Eur J Hum Genet. 2010; doi:10.1038/ejhg.2010.42.18(9)

  16. Sípek Jr A, Grodecká L, Baxová A, Cibulková P, Dvořáková M, Mazurová S, Magner M, Zeman J, Honzík T, Freiberger T. Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome. Am J Med Genet. 2014;164A(6):1559–64. doi:10.1002/ajmg.a.36480. Epub 2014 Mar 25.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Cardiovascular and Cell Sciences Research Institute, St George’s, University of London, London, UK

    Anne H. Child MD, FRCP

Authors
  1. Anne H. Child MD, FRCP
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Anne H. Child MD, FRCP .

Editor information

Editors and Affiliations

  1. Cardiovascular & Cell Sciences Research, St George's, University of London, London, United Kingdom

    Anne H. Child

Rights and permissions

Reprints and permissions

Copyright information

© 2016 Springer-Verlag London

About this chapter

Cite this chapter

Child, A.H. (2016). Infantile and Neonatal Marfan Syndrome. In: Child, A. (eds) Diagnosis and Management of Marfan Syndrome. Springer, London. https://doi.org/10.1007/978-1-4471-5442-6_4

Download citation

  • DOI: https://doi.org/10.1007/978-1-4471-5442-6_4

  • Published:

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-5441-9

  • Online ISBN: 978-1-4471-5442-6

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation