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.
|Number of pages||8|
|Publication status||Published - 1999|
- Aortic dissection
- Iris dysplasia