title: Arterial tortuosity syndrome: case report.
abstract: Arterial tortuosity syndrome (ATS; OMIM 208050) is a rare autosomal recessive condition characterized by dysmorphic features, elongation, tortuosity, and aneurysm of the large and middle sized arteries. We report on a 13-year-old boy who presented with a malformed ascending aorta mimicking coarctation of aorta and a cutis laxa-like facial dysmorphia. Based on angiogram, a diagnosis of ATS was made and subsequently confirmed by a homozygous one base-pair deletion at position g.318 of SLCA10. We stress similarities (facial appearance, inguinal herniae, ..) between ATS and autosomal recessive cutis laxa, both being connective tissue disorders disorganizing the elastin network.
authors: Department of Paediatric Cardiology, Faculty of Medicine, Malatya, Turkey. ckarakurt@yahoo.com
authors: C
authors: C
authors: Karakurt
authors: G
authors: G
authors: Koçak
authors: O
authors: O
authors: Elkiran
authors: P J
authors: PJ
authors: Coucke
authors: L
authors: L
authors: Van Maldergem
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D001013:Aorta, Thoracic / Q000002:abnormalities* / Q000473:pathology; D001027:Aortography / Q000379:methods; D001158:Arteries / Q000002:abnormalities; D003937:Diagnosis, Differential; D019066:Facies; D020022:Genetic Predisposition to Disease / Q000235:genetics; D051246:Glucose Transport Proteins, Facilitative / Q000235:genetics; D006801:Humans; D007593:Joint Instability / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D012873:Skin Diseases, Genetic / Q000175:diagnosis* / Q000235:genetics; D054079:Vascular Malformations / Q000175:diagnosis* / Q000235:genetics
chemical_list: D051246:Glucose Transport Proteins, Facilitative; C430746:SLC2A10 protein, human