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Three new families with arterial tortuosity syndrome
Author(s) -
Wessels Marja W.,
CatsmanBerrevoets Coriene E.,
Mancini Grazia M.S.,
Breuning Martijn H.,
Hoogeboom Jeanette J.M.,
Stroink Hans,
FrohnMulder Ingrid,
Coucke Paul J.,
Paepe Anne De,
Niermeijer Martinus F.,
Willems Patrick J.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30272
Subject(s) - connective tissue disorder , medicine , tortuosity , connective tissue , histology , stenosis , anatomy , muscle hypertrophy , pathology , cardiology , geotechnical engineering , porosity , engineering
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. © 2004 Wiley‐Liss, Inc.