Abstract
Neonatal Marfan syndrome (MFS) is a severe form of classic MFS caused by mutations in a specific region of the fibrillin 1 gene (FBN1). We report a case of an infant with neonatal MFS who presented with flexion contractures in utero and severe skeletal and cardiovascular manifestations at birth. A novel de novo missense mutation in exon 26 of FBN1 was demonstrated. Because of potential new therapies, it is increasingly important to recognize neonatal MFS in utero as well as shortly after birth to initiate the appropriate diagnostic work-up and management.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Cardiovascular Diseases / genetics
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Contracture / diagnosis
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Contracture / genetics
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Cytosine
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Early Diagnosis
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Exons
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Fatal Outcome
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Fibrillin-1
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Fibrillins
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Humans
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Infant, Newborn
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Male
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Marfan Syndrome / diagnosis*
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Marfan Syndrome / genetics*
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Marfan Syndrome / pathology
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Microfilament Proteins / genetics*
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Musculoskeletal Abnormalities / genetics
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Mutation, Missense*
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Prenatal Diagnosis
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Thymine
Substances
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FBN1 protein, human
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Fibrillin-1
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Fibrillins
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Microfilament Proteins
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Cytosine
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Thymine