منابع مشابه
Ehlers-Danlos syndrome, classical type.
Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. The most recent criteria for the diagnosis of EDS were devised ...
متن کاملEhlers-Danlos Syndrome Type VIII
Ehlers-Danlos syndrome (EDS) is a genetically heterogeneous connective tissue disorder which is comprised of more than 10 phenotypes including EDS-VIII (periodontitis type), which is characterized by chronically inflamed pretibial lesions and severe periodontitis. We describe a 26-year-old female with a long-standing history of abnormal scarring tissues, presenting with pretibial waxy violaceou...
متن کاملEhlers-Danlos syndrome (type VIII).
Ehlers-Danlos syndrome (EDS), a group of rare, autosomal dominantly inherited connective tissue dysplasias, characterized mainly by abnormal collagen synthesis, has been shown to exhibit extensive heterogeneity with at least 11 clinical entities differentiated by their clinical, biochemical, and genetic features. Of these, Type VIII EDS is of special interest from a dental viewpoint, due mainly...
متن کاملEhlers-Danlos syndrome type IV
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 ...
متن کاملEhlers-Danlos syndrome: type VI A – kyphoscoliosis; a case report
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...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
سال: 2017
ISSN: 1552-4868
DOI: 10.1002/ajmg.c.31548