Holt-Oram syndrome with malformations of renal and cerebral arteries.
The case of a 40-year-old woman with Holt-Oram syndrome is presented. Besides the absence of thumbs and an atrial septal defect, she presented multiple strokes and end-stage renal failure. The latter might be attributed to malformations of the arteries of the brain and kidneys within the expression of the syndrome, despite the small possibility of coincidence.
Koutlas
E D
ED
Department of Neurology, Hippocration Hospital, Thessaloniki, Greece.
Papageorgiou
A A
AA
Athyros
V G
VG
D000015:Abnormalities, Multiple; D000328:Adult; D005260:Female; D006344:Heart Septal Defects, Atrial; D006801:Humans; D002538:Intracranial Arteriovenous Malformations; D012077:Renal Artery / Q000002:abnormalities*; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities