Abstract
Homocystinuria is characterized by skeletal manifestations (tall stature, dolichostenomelia, scoliosis, and pectus excavatum), ophthalmologic problems (ectopia lentis, severe myopia), vascular thromboembolism, and intellectual disability. Other features sometimes seen include: seizures, psychiatric problems, extrapyramidal signs, hypopigmentation of the skin and hair, malar flush, livedo reticularis, and pancreatitis.
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