ArticleEuropean journal of pediatrics2004
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.
Article in European journal of pediatrics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 41 citations in OpenAlex.
- Genotype-Phenotype Correlations, Treatment, and Prognosis of Children With Early-Onset (Neonatal) Marfan Syndrome.Clinical genetics · 2025Article
- High-Throughput Genomics Identify NovelInternational journal of molecular sciences · 2024Article
- Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.Journal of cardiovascular development and disease · 2024Review
- Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome.BMC pediatrics · 2023Article
- The Role ofGenes · 2021Review
- Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics.International journal of molecular sciences · 2021Review
- Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.Frontiers in pediatrics · 2021Review
- Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Disease models & mechanisms · 2017Review
- A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team.Case reports in pediatrics · 2017Article
- Open Transthoracic Plication of the Diaphragm for Unilateral Diaphragmatic Eventration in Infants and Children.The Korean journal of thoracic and cardiovascular surgery · 2015Article
- Genetic causes of congenital diaphragmatic hernia.Seminars in fetal & neonatal medicine · 2014Review
- Informative STR Markers for Marfan Syndrome in Birjand, Iran.Iranian journal of basic medical sciences · 2012Article
- Dilatation of the great arteries in an infant with marfan syndrome and ventricular septal defect.Case reports in medicine · 2011Article
- Article
- Molecular genetics of congenital diaphragmatic defects.Annals of medicine · 2007Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledNeonatal 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.
conclusionMolecular 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).
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