Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature

Eur J Pediatr. 2004 Jan;163(1):33-7. doi: 10.1007/s00431-003-1330-8. Epub 2003 Oct 30.


Neonatal Marfan syndrome, the most severe presentation of Marfan syndrome phenotypes (MIM 154700), is characterised mainly by joint contractures, arachnodactyly, loose skin, crumpled ears, severe atrioventricular valve dysfunction and pulmonary emphysema. Death usually occurs within the first 2 years of life from congestive heart failure. We describe here a newborn male with many typical characteristics of neonatal Marfan syndrome associated with a diaphragmatic eventration and a bilateral uretero-hydronephrosis with bladder dilatation. He died from cardiac failure due to severe tricuspid and mitral regurgitation at 62 h of age.

Conclusion: Molecular analysis showed a heterozygous missense mutation at nucleotide 3165 (3165T>G) in exon 25 of the FBN1 gene, resulting in the substitution of cysteine for tryptophan (C1055W).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Diaphragmatic Eventration / etiology
  • Diaphragmatic Eventration / genetics
  • Fatal Outcome
  • Fibrillin-1
  • Fibrillins
  • Heart Failure / etiology*
  • Heart Failure / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Marfan Syndrome / complications
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / genetics*
  • Mutation, Missense
  • Urologic Diseases / etiology
  • Urologic Diseases / genetics


  • FBN1 protein, human
  • Fibrillin-1
  • Fibrillins
  • Microfilament Proteins