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CLINIC AND GENETIC HETEROGENEITY IN EHLERS-DANLOS SYNDROME

Keywords: Ehlers-Danlos syndrome , genetic heterogeneity , gene COL3A1

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Abstract:

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of hereditable connective tissue disorders characterized by articular hypermobility, skin hyperextensibility, and tissue fragility. EDS type IV being the most life-threatening form. It is characterized by a type III collagen deficiency and this disease involves a col3A1 gene mutation (5, 6). We report the case of a 47 year-old woman with type IV EDS. Each of her two children presented clinical elements of EDS: her daughter (25 years old) and her son (18 years old). Clinic and genetic heterogeneity of the disease is very evident in this family,the three family members presenting clinical symptoms and comorbidities which made difficult the attempt to integrate them in a certain EDS type; these three cases presented a various clinical expression and severity. Another particularity is also represented by the presence and high frequency of associated spontaneous bone fractures.

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