Twenty patients with the Ehlers-Danlos syndrome, (10 type I, six type II, and four type IV) were studied to assess the frequency of respiratory abnormalities in this condition. Five patients (25%) had had at least one episode of haemoptysis, but none had any defect of coagulation. There was a high frequency of recurrent sinusitis, notably in those with the type I syndrome. Two patients had bull...

448 BMJ | 1 SEPTEMBER 2007 | VoluME 335 hinder implementation of these recommendations. Recognising the condition and the impact it can have on the lives of patients and their families is therefore a necessary preliminary to improving care. • People with severe CFS/ME who are housebound or need prolonged bed rest require specialised care, but evidence is lacking about which treatments are most ...

The Ehlers-Danlos syndrome (EDS) comprises a heterogenous group of nine hereditary connective tissue disorders, characterized by hyperelasticity of skin and hypermobility of joints to differing extents. The skin is easily injured and wound healing is delayed. The majority of EDS patients belong to EDS-types I-III. The pathogenesis in these cases is not known, although recent data suggest a role...

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...

Vascular type Ehlers-Danlos syndrome is an inherited connective tissue disease, which is typified by tissue fragility, joint hypermobility, a tendency to bleed excessively and rupture of the uterus, the bowel and arteries. Two case reports are presented which describe the anaesthetic management of patients with spontaneous bowel perforations due to vascular type Ehlers-Danlos syndrome. Both cas...

Rare patients are left with chronic pain, vasodysregulation, and other symptoms that define complex regional pain syndrome (CRPS), after limb traumas. The predisposing factors are unknown. Genetic factors undoubtedly contribute, but have not yet been identified. We report four CRPS patients also diagnosed with the classical or hypermobility forms of Ehlers Danlos syndrome (EDS), inherited disor...

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...

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...

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...