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in 65 exons) gene, knowing that almost each family has its own specific defects and that the mutations are essentially point mutations. Finally, this very costly analysis may fail to identify a mutation because only the coding sequence and closely surrounding regions are investigated. However, in the case of neonatal MFS, where a clustering of mutations is found in exons 24-32, molecular diagnosis can be performed. In all other instances and until better molecular tools are available, mutation identification cannot be performed on a systematic basis. However, in a few cases where family mutation had been identified, it was possible to perform prenatal diagnosis on chorionic villus samples, or to offer presymptomatic diagnosis in children of affected subjects who are at risk.

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