Arterial tortuosity syndrome (ATS) is a rare condition with autosomal recessive inheritance characterized by connective tissue abnormalities. The most specific clinical findings are cardiovascular anomalies including tortuosity, lengthening, aneurysm, and stenosis formation of major arteries. Also ventricular hypertrophy is frequently present. Other anomalies are skin hyperextensibility and cutis laxa, joint laxity or contractures of the joints, and inguinal herniae. Histology shows disruption of elastic fibers of the media. These features suggest that ATS is a connective tissue disorder. A biochemical or molecular defect has not yet been identified. We describe here nine additional ATS patients from three consanguineous Moroccan families and review a total of 35 patients with this uncommon condition.

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American Journal of Medical Genetics. Part A
Department of Neurology

Wessels, M., Niermeijer, M., Willems, P., Catsman-Berrevoets, C., Mancini, G., Breuning, M., … de Paepe, A. (2004). Three new families with arterial tortuosity syndrome. American Journal of Medical Genetics. Part A, 131 A(2), 134–143. doi:10.1002/ajmg.a.30272