Mutations of the fibrillin gene (FBN1) are known to cause classical Marfan's 
syndrome, ectopia lentis and neonatal Marfan's syndrome. We have identified a 
novel missense mutation in exon 28 of the FBN1 gene (R1170H) which is 
responsible for an atypical marfanoid phenotype characterised by 
dolichostenomelia and arachnodactyly.