It was Marfan syndrome, a rare connective tissue disease ... that can lead to the sudden rupture of the aorta. “He is Marfanoid,” Dr. Richard Devereux was quoted as telling Salon.com nearly ...

As there is no specific phenotypic description of Alport syndrome in the literature, less attention is paid to the physical features. In our case series we found marfanoid habitus in all cases.

We suggest that this previously unknown genotype/phenotype relationship constitutes a new fibrillinopathy for which the name marfanoid–progeroid–lipodystrophy syndrome would be appropriate.