Progress in Heritable Soft Connective Tissue Diseases

Progress in Heritable Soft Connective Tissue Diseases-1

Jaroslava Halper
Editor

2014

Marfan and Ehlers-Danlos syndromes are the two best known and most studied heritable disorders of soft tissues. The contrast between what was known about clinical presentation and symptomatology, pathology, and mode of inheritance of what we call Marfan syndrome today when it was described fi rst in a case report in 1896 by Antoine Marfan himself [ 1 ] and later as dystrophia mesodermalis typus Marfan in 1931 [ 2 , 3 ], and what we know today about its biochemistry, genetics, and clinical picture is truly astounding.

 

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