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Revista médica de Chile

Print version ISSN 0034-9887

Abstract

CEVALLOS B., Carolina; VARGAS, Emilio; GONZALEZ B., Sergio  and  MOLGO, Montserrat. Suspected vascular ehlers danlos syndrome. Case report. Rev. méd. Chile [online]. 2018, vol.146, n.8, pp.938-942. ISSN 0034-9887.  http://dx.doi.org/10.4067/s0034-98872018000800938.

Ehlers Danlos Syndrome comprises a heterogeneous group of genetic disorders of the connective tissue, due to defects in collagen or its modifying enzymes. We report a 21 years old male presenting with translucent skin revealing the subcutaneous venous pattern. He had a thin face, large-appearing eyes, thin lips, thin nose, joint hypermotility and history of hip dysplasia. A vascular Ehlers Danlos Syndrome was suspected. However, the genetic study to confirm the diagnosis was not done.

Keywords : Connective Tissue Diseases; Ehlers-Danlos Syndrome; Genetic Diseases, Inborn.

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