Fatal Marfan syndrome in the neonatal period
Jalaguier, J.; Montoya, F.; Sarda, P.; Teot, L.; Bonnet, H.
Journal de Genetique Humaine 33(5): 435-444
1985
ISSN/ISBN: 0021-7743 PMID: 4093773 Document Number: 261871
Case-report of neonatal Marfan Syndrome with at birth the following observations: arachnodactyly, excessive length of arm, cardiac anomalies with hemodynamic troubles leading to death within 4 days. Anatomical data of the postmortem examination and histologic anomalies of the aorta confirm the diagnosis. No case of Marfan syndrome are to be found among forebearers. These characteristics underline the rarity, the gravity of the pronostic and the often sporadic appearance of the Marfan syndrome when revelated in the neonatal period.