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A rare case of arterial tortuosity syndrome in an adult

Arterial tortuosity syndrome (ATS) is rare autosomal recessive connective tissue disorder. It affects large and medium-sized arteries inducing tortuosity and elongation. Typical skeletal manifestations are dysmorphic features, hyperextensible skin, hypermobile joints, and congenital contractures. We...

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Detalles Bibliográficos
Autores principales: Elnaggar, Mohamed Elsayed, Aly, Mahmoud Mohamed, Abduljawad, Hiba, Bubshait, Maryam, Ebrahim, Wael Hamed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9157184/
https://www.ncbi.nlm.nih.gov/pubmed/35663805
http://dx.doi.org/10.1016/j.radcr.2022.05.005
Descripción
Sumario:Arterial tortuosity syndrome (ATS) is rare autosomal recessive connective tissue disorder. It affects large and medium-sized arteries inducing tortuosity and elongation. Typical skeletal manifestations are dysmorphic features, hyperextensible skin, hypermobile joints, and congenital contractures. We present a case of a 33-year-old female, with history of multiple abdominal wall hernias, who was diagnosed with ATS by preoperative investigations based on typical vascular manifestations. We will present the radiological findings of this rare condition.