This article reports the largest familial aggregation of Chiari malformation in a single family to date as reported in the literature. This study is a retrospective case series of a family of whom five individuals have a confirmed case of Chiari malformation and three additional individuals have Chiari signs and symptoms. This contribution further supports the implication of genetics in the tra...

We thank M. Arseneau, L. Grant, H. Kobluk, J. Nelson, and S. Leaver for data collection; L. Reshitnyk for creating fig. S1; and P. Ehlers and J. Ehlers for statistical assistance. S. Anderson, J. Baum, T. Branch, J. Brashares, A. Calestagne, S. Carlson, T. Davies, D. Kramer, T. Levi, J. Reynolds, and the “Ecology@UVic” discussion group offered insight on drafts. We thank the Raincoast Conservat...

A 23year-old Thai female presented with skin laxity and delayed wound healing. Physical examination revealed asymmetry of face and hypertelorism of both eyes. Microtia of right ear, right periauricular pit, multiple fish mouth and cigarette paper scars were found. There were hyperextension of elbows and knees, 10 degrees and 15 degrees, respectively, Passive hyperflexion of the 5th finger more ...

A 46-year-old female patient with Ehlers-Danlos Syndrome had undergone fusion of her right knee 25 years before presentation. This markedly affected her quality of life. She underwent a two-stage conversion to a constrained rotating-hinge total knee arthroplasty. She regained a satisfying range of motion and she has a painfree, mobile and stable knee at 42 months follow-up. Conversion of knee f...

Ehlers-Danlos syndrome is a heritable connective tissue disorder with an estimated prevalence of one in 10,000 to 25,000 persons [1]. Using clinical phenotype, biochemical and molecular defects, as well as inheritance patterns, a total of 6 subtypes have been described [2]. Although its hallmark findings include severe joint laxity and hyperextensible skin, this condition is known to affect a v...

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. ...

Bindegewebskrankheiten oder klassische Stoffwechselkrankheiten gehören zu den seltenen Krankheiten und sind in der Regel Multisystemerkrankungen. Beide Krankheitsgruppen werden am Kinderspital Zürich inter- multidisziplinär betreut. Im Folgenden wird anhand konkreter Problemstellungen des kyphoskoliotischen Ehlers-Danlos-Syndroms (kEDS) die interdisziplinäre Zusammenarbeit an Universitätsklinik...

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 ...

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.