Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent
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1Department of Clinical Genetics, Royal Alexandra Hospital for Children, Parramatta, New South Wales, Australia. lesleya@nch.edu.au
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.
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