Acrorenal syndrome associated with visual defect.
The clinical biochemical, radiological, and histological data of a 5-year-old boy with severe limb deformities and renal failure due to oligomeganephronia and renal hypoplasia are reported. This patient represents another example of acrorenal syndrome. This boy has a severe visual defect due to pigmentory retinopathy, which has not been reported previously.
al Salloum
A A
AA
Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
al Rasheed
S A
SA
al Husain
M A
MA
al Mugeiren
M M
MM
al Rikabi
A S
AS
al Sohaibani
M O
MO
D002675:Child, Preschool; D005532:Foot Deformities, Congenital / Q000473:pathology*; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D007676:Kidney Failure, Chronic / Q000503:physiopathology; D008297:Male; D013577:Syndrome; D014786:Vision Disorders / Q000151:congenital / Q000473:pathology*