A syndrome of short stature, amimic facies, enamel hypoplasia, slowly progressive stiffness of the joints and high-pitched voice in two siblings.
D000293:Adolescent; D001024:Aortic Valve Stenosis / Q000150:complications; D002648:Child; D002809:Chondroitin Sulfates / Q000652:urine; D003744:Dental Enamel Hypoplasia / Q000235:genetics*; D005145:Face; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007592:Joint Diseases / Q000235:genetics*; D008297:Male; D013577:Syndrome; D014831:Voice
D006025:Glycosaminoglycans; D002809:Chondroitin Sulfates