[Suspected vascular ehlers danlos syndrome. Case report]
Carolina Cevallos B1, Emilio Vargas2, Sergio González B3
1Pontificia Universidad Católica de Chile, Santiago, Chile.
Abstract:
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.
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