Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent

Abstract

We describe a 14-year-old male with 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.