Three new families with arterial tortuosity syndrome.
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.
Wessels
Marja W
MW
Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands. m.w.wessels@erasmusmc.nl
Catsman-Berrevoets
Coriene E
CE
Mancini
Grazia M S
GM
Breuning
Martijn H
MH
Hoogeboom
Jeanette J M
JJ
Stroink
Hans
H
Frohn-Mulder
Ingrid
I
Coucke
Paul J
PJ
Paepe
Anne De
AD
Niermeijer
Martinus F
MF
Willems
Patrick J
PJ
D000015:Abnormalities, Multiple; D018376:Cardiovascular Abnormalities; D003238:Connective Tissue / Q000002:abnormalities*; D003241:Consanguinity; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009018:Morocco; D010375:Pedigree; D013577:Syndrome