objective ullrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development. in general it is inherited in autosomal recessive principles, however in the western world mostly seen with de novo dominant mutations in the collagen vi genes. milder form of the condition is the bethlem myopathy. there may be overlap ...

A spontaneous coronary artery dissection as the sole presenting feature of vascular Ehlers-Danlos syndrome is an uncommon finding. We present a 33-year-old woman with sudden onset chest pain caused by dissection. Genetic testing revealed underlying cause. Specifically, we show value genetic testing, which in some patients may be only way establishing diagnosis.

PURPOSE Ehlers-Danlos syndrome (EDS) is a complex hereditary connective tissue disorder infrequently reported in association with epilepsy. Seven patients with ages ranging from 28 to 70 years with EDS and epilepsy are described. METHODS Case review of clinical and diagnostic data. RESULTS Two patients had occipital horn syndrome (EDS type IX) and partial seizures of probable supplementary ...

Article received: 03-08-2014. Accepted for publication: 25-08-2014. Address for correspondence: Julia Cohen-Lévy, Nicolas Cohen – 255, Rue Saint-Honoré – 75001 Paris, France E-mail: [email protected] 1 A young adult male was referred for orthodontic recurrence with unesthetic secondary migrations. He was also treated for severely disabling joint pain in a type-III Ehlers-Danlos syndrome. ...

There are intimate interrelations between various elements of connective tissue, viz. collagen, elastin, and glycoproteins. It is not unexpected that Marfan and Ehlers-Danlos syndromes share common features. The condition is labelled as Marfanoid hypermobility syndrome. In the patient described here, the Marfanoid hypermobility syndrome was associated with coarctation of the aorta which was cor...

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...

Background The term benign hypermobility syndrome is applied to those children with musculoskeletal pain associated with generalized hypermobility of the joints without any associated congenital syndrome or abnormality of connective tissue, such as Marfan's or Ehlers-Danlos syndrome. The aim of this study was to determine the prevalence of joint hypermobility among school students and to define...