Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent.
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.
Adès
L C
LC
Department of Clinical Genetics, Royal Alexandra Hospital for Children, Parramatta, New South Wales, Australia. lesleya@nch.edu.au
Davies
R
R
Haan
E A
EA
Holman
K J
KJ
Watson
K C
KC
Sreetharan
D
D
Cao
S N
SN
Milewicz
D M
DM
Bateman
J F
JF
Chiodo
A A
AA
Eccles
M
M
McNoe
L
L
Harbord
M
M
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
D000071837:Fibrillins; D008840:Microfilament Proteins; D003094:Collagen