Corneal clouding, subvalvular aortic stenosis, and midfacial hypoplasia associated with mental deficiency and growth retardation--a new syndrome?
Two siblings, a 17 year-old female and a 15 year-old boy, with a hitherto unidentified malformation syndrome are reported. Both presented with corneal clouding, subvalvular aortic stenosis, midfacial hypoplasia, skeletal anomalies, and a variable degree of growth- and mental retardation.
D000293:Adolescent; D001020:Aortic Stenosis, Subvalvular / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D003318:Corneal Opacity / Q000235:genetics*; D005145:Face; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome