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Clinical features of neonatal Marfans syndrome

Clinical features of neonatal Marfans syndrome

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Background: Neonatal Marfan syndrome (MFS) lies at the most severe end of the MFS clinical spectrum, sharing some characteristics of MFS, but with a more severe clinical phenotype, slightly variable genotype, and a poor prognosis. We report a case of neonatal MFS diagnosed antenatally and in whom diagnosis was established postnatally by clinical ex...

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Context 1
... detailed examination was challenging in the given circumstances. The dysmorphic features that were apparent on general physical examination are listed in Table 1 and appreciable in Figure 1. Significant systemic examination findings included a visibly pulsatile precordium with a holosystolic murmur heard at the left lower sternal border, and the absence of abdominal organomegaly. ...

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