A family of Marchesani syndrome with mitral valve prolapse and anuloaortic ectasia

: Marchesani syndrome consists of short statue, small spherical lens, glaucoma and brachydactyly, which are manifestations of hyperplastic connective tissue disease in systemic organs of mesodermal origin (Marchesani 1939). Among nearly 200 cases of Marchesani syndrome reported in the ophthalmology field, none has shown cardiac manifestations which typically characterize Marfan syndrome caused by hypoplastic connective tissue disorders. We experienced 2 cases which met the diagnosis of Marchesani syndrome and yet showed annuloaortic ectasia and mitral valve prolapse. A 30-year-old man and a 26-year-old woman who are siblings suffered from manifested brachydactyly, spherophakia, glaucoma and cardiac involvements. Their parents are in consanguinity. These unprecedented cases with mixed manifestations provide the evidence of possible gene-crossing between these 2 dystrophic mesodermal disorders.