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Clin Dysmorphol ; 8(4): 269-76, 1999 Oct.
Article in English | MEDLINE | ID: mdl-10532176

ABSTRACT

We describe a 14-year-old male with dissection of the descending aorta, bilateral iris hypoplasia, striae distensae and brachytelephalangy, the latter being most marked in the thumbs. Inguinal herniae and a patent ductus arteriosus were surgically repaired in infancy. The pattern of abnormalities may constitute a previously undescribed syndrome. The proband died suddenly at the age of 17 years.


Subject(s)
Abnormalities, Multiple , Aortic Aneurysm , Aortic Dissection , Fingers/abnormalities , Iris/abnormalities , Abnormalities, Multiple/genetics , Abnormalities, Multiple/metabolism , Adolescent , Aorta, Thoracic , Collagen/metabolism , Fibrillins , Humans , Karyotyping , Male , Microfilament Proteins/metabolism , Polymorphism, Single-Stranded Conformational , Toes/abnormalities
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