A 2-year-old girl was referred to our clinic for evaluation of Ehlers-Danlos syndrome. She had a history of easy bruising, and the physical examination showed hematomas, stretchy skin of velvety texture, and hyperflexible joints, suggestive of the presumed diagnosis. Her father had fullblown Ehlers-Danlos syndrome of the classic type featuring skin hyperextensibility, widened atrophic scars, an...

The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders characterized by triad of joint hypermobility, skin extensibility, and tissue fragility. Ehlers-Danlos syndrome type IV places patients at risk for life-threatening, spontaneous, vascular or visceral rupture due to reduced or abnormal secretion of type III collagen. We present an adolescent male who was found to have a...

The Ehlers-Danlos syndrome is a group of inherited connective tissue disorders caused by defects in collagens or tenascin-X (TNX). Muscle involvement can be expected based on interactions between muscle and extracellular matrix molecules; however, muscle function has not yet been investigated quantitatively. This study aims to investigate effects of TNX deficiency on muscular characteristics in...

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 ...

Celiprolol is a β-blocker with a unique pharmacologic profile: it is a β1-andrenoceptor antagonist with partial β2 agonist activity. Given this combination of effects, celiprolol may be better described as a selective adrenoreceptor modulator. It has antihypertensive and antianginal properties and is indicated for those uses in various countries around the world. In the United States, however, ...

BACKGROUND Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1). Affected patients are at risk for arterial, bowel, and uterine rupture, but the timing of these events, their frequency, and the course of the disease are not well documented. METHODS We reviewed the clinical and family histories of and medical and surgical compl...

Referrals are invited from consultants in secondary and/or tertiary care for patients in whom the diagnosis of EDS is suspected but not confirmed for one of the following reasons: > Diagnostic criteria according to Villefranche classification are not met > Diagnostic testing does not confirm the diagnosis suspected > Diagnostic criteria of more than one type of EDS are identified > There are si...