• Jaroslava HalperEmail author
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 802)


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 first 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. Today we have quite extensive (and unprecedented) knowledge of various biochemical and genetic aspects of the numerous types of Ehlers-Danlos syndrome, and we need to give credit to Job Janszoon Van Meek’ren, a Dutch surgeon, who gave a very apt, first documented description of a person suffering from Ehlers-Danlos already in 1657 [4, 5]. Because of rapidly expanding knowledge about heritable soft tissue disorders which needs to be constantly updated, we conceived of a volume which, rather than being a comprehensive tome of information that would rapidly become obsolete, would bridge basic science and clinical application, and so would serve as a reference handbook for basic scientists and clinicians seeing patients, and as a stepping stone for new investigations and studies. Rather than simply rehashing facts about the composition and biochemistry of the connective tissue and extracellular matrix, we tried to connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment of them in the first four chapters (Chaps. 2-5).


Marfan Syndrome Heritable Disorder Cutis Laxa Small Leucine Rich Proteoglycan Advanced Imaging Technology 
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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  1. 1.Department of Pathology, College of Veterinary Medicine and Medical PartnershipThe University of GeorgiaAthensUSA

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