Neonatal Marfan syndrome: clinical report and review of the literature.
The neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. The relative infrequency of this syndrome hampers the clinical diagnosis at an early age. This report describes the progress of a 4-year-old boy with neonatal Marfan syndrome and severe cardiac involvement. Molecular genetic studies showed a de novo point mutation in exon 29 of the FBN1 gene located on chromosome 15q21.1. This mutation is in the classic region for nMFS and has not been reported before. The literature is reviewed. We stress the importance of early recognition of the phenotype in order to anticipate the development of cardiac abnormalities.
Heide
Henriette Ter
HT
Department of Paediatric Cardiology Clinical Genetics, University Hospital Maastricht Research Institute Growth and Development (GROW), Maastricht University, Maastricht Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands.
Schrander-Stumpel
Constance T R M
CTRM
Pals
Gerard
G
Delhaas
Tammo
T
D019943:Amino Acid Substitution / Q000235:genetics; D002675:Child, Preschool; D000071838:Fibrillin-1; D000071837:Fibrillins; D006330:Heart Defects, Congenital / Q000209:etiology / Q000473:pathology / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009426:Netherlands; D017354:Point Mutation / Q000235:genetics; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines