期刊
EUROPEAN JOURNAL OF PEDIATRICS
卷 163, 期 1, 页码 33-37出版社
SPRINGER-VERLAG
DOI: 10.1007/s00431-003-1330-8
关键词
congenital contractural arachnodactyly; congenital diaphragmatic eventration; FBN1; neonatal Marfan syndrome; uretero-hydronephrosis
类别
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).
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