Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. |
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| Authors: | L C Adès R Davies E A Haan K J Holman K C Watson D Sreetharan S N Cao D M Milewicz J F Bateman A A Chiodo M Eccles L McNoe M Harbord |
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| Affiliation: | Department of Clinical Genetics, Royal Alexandra Hospital for Children, Parramatta, New South Wales, Australia. lesleya@nch.edu.au |
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| 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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