The skeletal alterations of a 13-year-old girl with homocystinuria are describedemphasizing those found at the spine. Osteoporosis, non-uniform widening of the intervertebraldiscs, morphological changes in the vertebral bodies and decrease in the distancebetween both pedicles in the lumbar spine were the most significant findings. A rationale ofsymptoms and radiological signs for differential diagnosis with Marfan syndrome is presentedand discussed.

The skeletal alterations of a 13-year-old girl with homocystinuria are describedemphasizing those found at the spine. Osteoporosis, non-uniform widening of the intervertebraldiscs, morphological changes in the vertebral bodies and decrease in the distancebetween both pedicles in the lumbar spine were the most significant findings. A rationale ofsymptoms and radiological signs for differential diagnosis with Marfan syndrome is presentedand discussed.