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.
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.


CONCLUSIONS
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).
Center for Human Genetics and Medical Genetics Unit, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Av. Mounier 5220, 1200 Brussels, Belgium. nicole.revencu@gmed.ucl.ac.be
Nicole
N
Revencu
Geneviève
G
Quenum
Thierry
T
Detaille
Gaston
G
Verellen
Anne
A
De Paepe
Christine
C
Verellen-Dumoulin
D003965:Diaphragmatic Eventration / Q000209:etiology / Q000235:genetics; D017809:Fatal Outcome; D000071838:Fibrillin-1; D000071837:Fibrillins; D006333:Heart Failure / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000150:complications / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D020125:Mutation, Missense; D014570:Urologic Diseases / Q000209:etiology / Q000235:genetics; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines