title: Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent.
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.
authors.affiliation: Department of Clinical Genetics, Royal Alexandra Hospital for Children, Parramatta, New South Wales, Australia. lesleya@nch.edu.au
authors.forename: L C
authors.initials: LC
authors.lastname: Adès
authors.forename: R
authors.initials: R
authors.lastname: Davies
authors.forename: E A
authors.initials: EA
authors.lastname: Haan
authors.forename: K J
authors.initials: KJ
authors.lastname: Holman
authors.forename: K C
authors.initials: KC
authors.lastname: Watson
authors.forename: D
authors.initials: D
authors.lastname: Sreetharan
authors.forename: S N
authors.initials: SN
authors.lastname: Cao
authors.forename: D M
authors.initials: DM
authors.lastname: Milewicz
authors.forename: J F
authors.initials: JF
authors.lastname: Bateman
authors.forename: A A
authors.initials: AA
authors.lastname: Chiodo
authors.forename: M
authors.initials: M
authors.lastname: Eccles
authors.forename: L
authors.initials: L
authors.lastname: McNoe
authors.forename: M
authors.initials: M
authors.lastname: Harbord
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000378:metabolism; D000293:Adolescent; D000784:Aortic Dissection; D001013:Aorta, Thoracic; D001014:Aortic Aneurysm; D003094:Collagen / Q000378:metabolism; D000071837:Fibrillins; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D007621:Karyotyping; D008297:Male; D008840:Microfilament Proteins / Q000378:metabolism; D018807:Polymorphism, Single-Stranded Conformational; D014034:Toes / Q000002:abnormalities
chemical_list: D000071837:Fibrillins; D008840:Microfilament Proteins; D003094:Collagen