Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.
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.
Sutherell
Jamie
J
Division of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229-3039, USA.
Zarate
Yuri
Y
Tinkle
Bradley T
BT
Markham
Larry W
LW
Cripe
Linda H
LH
Hyland
James C
JC
Witte
David
D
Hopkin
Robert J
RJ
Hinton
Robert B
RB
D002318:Cardiovascular Diseases / Q000235:genetics; D003286:Contracture / Q000175:diagnosis / Q000235:genetics; D003596:Cytosine; D042241:Early Diagnosis; D005091:Exons; D017809:Fatal Outcome; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D008840:Microfilament Proteins / Q000235:genetics*; D009139:Musculoskeletal Abnormalities / Q000235:genetics; D020125:Mutation, Missense; D011296:Prenatal Diagnosis; D013941:Thymine; D054392:Adipokines
D003596:Cytosine; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; D013941:Thymine; C000605722:FBN1 protein, human; D054392:Adipokines