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

Lesley C. Adès, Roger Davies, Eric A. Haan, Katherine J. Holman, Karen C. Watson, Darsheeka Sreetharan, Cao Shi-Nian, Dianna M. Milewicz, John F. Bateman, Angelo A. Chiodo, Michael Eccles, Les McNoe, Michael Harbord

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)269-276
Number of pages8
JournalClinical Dysmorphology
Volume8
Issue number4
Publication statusPublished - 1999
Externally publishedYes

Keywords

  • Aortic dissection
  • Brachytelephalangy
  • Iris dysplasia

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