Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed ...

ehlers-danlos syndrome (eds vi)(omim 225400) is an autosomal recessive disease of the connective tissue. it is characterized by severe hypotonia at birth, progressive kyphoscoliosis, skin hyperelasticity, joint hypermobility, microcornea, rupture of arteries and eye globe, and osteopenia. collagen lysyl hydroxylase is deficient in these patients. deficiency of the activity of lysyl hydroxylase,...

We describe two patients with associations of hereditary neuropathies and heritable skeletal disorders not previously reported. The first patient had Marfan's syndrome and hereditary motor and sensory neuropathy Type 1. The second patient had Ehlers-Danlos syndrome, Klippel-Feil syndrome and tomaculous neuropathy.

Amniotic bands are described in two children with Ehlers-Danlos syndrome type IV and in one with severe osteogenesis imperfecta. Since the basic defect in both of these disorders rests in collagen, which constitutes the main component of the load bearing amnion, it is proposed that these cases provide further insight into the pathogenesis of amniotic bands.

© 2013 Kosho, licensee InTech. This is an open access chapter distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Discovery and Delineation of Dermatan 4-O-Sulfotransferase-1 (D4ST1)-Deficient Ehlers-Danlos ...

Two cases of Ehlers-Danlos syndrome (EDS) diagnosed on the basis of their clinical presentation are presented. EDS is a rare genetic disorder involving connective tissue of skin and joints, having a variety of presenting signs and symptoms. There is no specific therapy for this disease but it is important to diagnose it as it may end up in fatal complications.

Death from arterial bleeding or gastrointestinal perforation has previously been reported in more than 15 patients with the Ehlers-Danlos syndrome. On a basis of 100 personally examined patients and a review of published accounts, these events seem particularly likely to occur in two distinct and recognizable forms (the gravis and the ecchymotic forms) of the syndrome.

Arterial dissection is uncommon in young adults and there are usually underlying causes. This report describes 2 young patients with vascular complications after trivial injury who were diagnosed to have Ehlers-Danlos syndrome. One patient died while the other remains in a stable condition. Early clinical recognition of this syndrome is necessary so as to prevent mortality and reduce morbidity.

A 22-year-old woman with type I Ehlers-Danlos syndrome had severe radicular pain in the lower back. A laterally herniated lumbar disk was seen on myelography. Pain and walking improved after lumbar laminectomy. A chronic focal seizure disorder was associated with CT evidence of a congenital structural defect of the brain.

Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Marfan syndrome form a group of genetic disorders of connective tissue. These disorders exhibit remarkable clinical heterogeneity which reflects their underlying biochemical and molecular differences. Defects in collagen types I and III have been found in all three syndromes.