Trisomy 18 in a 13 year old girl.
A 13 year old girl with trisomy 18 is described. She showed profound mental and growth retardation, severe kyphoscoliosis, and unusual ocular features including discontinuous eyebrows, distichiasis, and blue sclerae.
D000293:Adolescent; D002902:Chromosomes, Human, 16-18; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007738:Kyphosis / Q000235:genetics*; D012590:Sclera / Q000002:abnormalities; D014314:Trisomy