Facio-cardio-renal syndrome: a newly delineated recessive disorder.
A previously undescribed genetic syndrome with multiple congenital malformations is described. The major components include: 1) horseshoe kidneys; 2) severe mental retardation; 3) characteristic facies; and 4) heart defects. Evidence for considering it to be an autosomal recessive syndrome is also discussed.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D005145:Face / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D013577:Syndrome