title: Probable homozygotic form of the Marfan syndrome in a newborn child.
abstract: A case of Marfan's syndrome diagnosed in a newborn boy is described. Both parents were affected by the disease but none of them was aware of it. The boy had cardiac, skeletal and ocular manifestations from birth. He suffered early from severe congestive heart failure due to mitral insufficiency and died at four months of age of pneumonia. The family history is described in this report.
authors.affiliation: Department of Paediatrics, Medical Center Hospital, Orebro, Sweden.
authors.forename: J
authors.initials: J
authors.lastname: Schollin
authors.forename: B
authors.initials: B
authors.lastname: Bjarke
authors.forename: K H
authors.initials: KH
authors.lastname: Gustavson
mesh_terms: D000328:Adult; D001011:Aorta / Q000473:pathology; D004452:Echocardiography; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics*