This case report describes a rare, probable homozygotic form of Marfan's syndrome in a newborn presenting with severe early cardiac manifestations and fatal outcome.
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Warns of early severe mitral insufficiency in homozygous Marfan syndrome; extends phenotypic descriptions but leaves management questions open.
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.
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Schollin et al. (1988) studied this question.
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