4 SIBS WITH ARTERIAL TORTUOSITY - DESCRIPTION AND REVIEW OF THE LITERATURE

We described four offspring of a consanguineous couple with arterial t ortuosity ''syndrome'' (ATS). The affected children had extensive arte rial involvement although the clinical presentations were quite variab le. Clinical manifestations included cutis laxa or soft/thin skin, joi nt laxity or contractures, and arachnodactyly. Aortic tortuosity and p ulmonary artery aneurysms with or without peripheral stenoses were dem onstrated in all four sibs. All three males had inguinal hernias. Inco nsistent facial anomalies were downslanting palpebral tissues, beaked nose, micrognathia, and high-arched palate. Results of collagen type I and type III biosynthesis studies were normal on skin fibroblasts. Hi stologic findings on autopsy of one affected child showed arterial cha nges with disruption of elastic fibers of the media and fragmentation of the internal elastic membrane as well as mucosal and transmural nec rosis of the stomach, small bowel, colon, and extensive necrosis of th e liver. Coronary artery involvement was also seen in this child as we ll as biventricular hypertrophy. We conclude that ATS is an autosomal recessive connective tissue condition associated with diffuse arterial changes and involvement of the skin, joints, and other organs. (C) 19 96 Wiley-liss, Inc.