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

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

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

Clin Dysmorphol. 1999 Oct;8(4):269-76.

Authors

L C Adès¹, 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

Affiliation

¹ Department of Clinical Genetics, Royal Alexandra Hospital for Children, Parramatta, New South Wales, Australia. [email protected]

PMID: 10532176

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple* / genetics
Abnormalities, Multiple* / metabolism
Adolescent
Aorta, Thoracic
Aortic Aneurysm*
Aortic Dissection*
Collagen / metabolism
Fibrillins
Fingers / abnormalities*
Humans
Iris / abnormalities*
Karyotyping
Male
Microfilament Proteins / metabolism
Polymorphism, Single-Stranded Conformational
Toes / abnormalities

Substances

Fibrillins
Microfilament Proteins
Collagen