A patient is described with Ehlers Danlos syndrome presenting with spontaneous carotid cavernous fistula, in whom there was biochemical evidence for defective type III collagen synthesis. Despite the risks associated with arterial manipulation, the fistula was successfully closed by interventional neuroradiology and the patient has since remained well. This outcome is in contrast with the resul...

The role of orthopedic surgery in Ehlers-Danlos syndrome is inherently controversial, opaque to most patients and many medical providers, and difficult to discern from available medical literature. Non-operative treatment is preferable, but for carefully selected patients, specific joint stabilization and nerve decompression procedures can provide symptomatic relief when conservative measures f...

There have been several reports of cardiac abnormalities in patients with the Ehlers-Danlos syndrome, but it is not certain whether these anomalies are part of the syndrome or whether they represent chance concomitants (McKusick, 1966). In an investigation in Southern England, 100 patients with this syndrome have been examined. The results of this survey, from the cardiac point of view, are pre...

Ehlers-Danlos syndrome (EDS) is a clinically heterogeneous groupof inherited disorders with ten different types, all involving agenetic defect in collagen and connective-tissue synthesis andstructure that affecting the skin, joints, and blood vessels. EDStype VIA, a very rare kyphoscoliotic type, is autosomal recessiveand clinically characterized by soft extensible skin, laxity ofjoints and kyp...

© 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.

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.

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.

Isolated visceral arteriopathies of the celiac and hepatic artery are rare. We present a case of a Caucasian man who presented with abdominal pain and was found to have a spontaneous celiac artery dissection. Genetic analysis revealed a mutation consistent with Ehlers-Danlos syndrome type IV. The patient died 2 months later from a spontaneous rupture of his hepatic artery.

BACKGROUND Spinal deformities in Ehlers-Danlos syndrome are usually progressive and may require operative treatment. There is limited number of studies describing late results of surgery in this disease. METHODS This is a retrospective study of the records of 11 patients with Ehlers-Danlos syndrome type IV, treated surgically between 1990 and 2007. All patients underwent surgical treatment fo...