Scoliosis in Sotos syndrome, X-ray

Scoliosis in Sotos syndrome, X-ray

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Credit: DR P. MARAZZI/SCIENCE PHOTO LIBRARY

Caption: Scoliosis in Sotos syndrome, image 1 of 2. Coloured X-ray of the curved spine (scoliosis) of a 15 year old boy with Sotos syndrome. This is a rare genetic disorder that causes abnormally rapid growth during the first few years of life, leading to the spinal deformity seen here. It can also cause impaired intelligence, behavioural problems and speech and language difficulties. It is caused by a mutation in the gene NSD1. In most cases it is due to a spontaneous mutation in the gene, but it can be inherited from an affected parent. As a genetic disease there is no cure, but some symptoms can be treated. To see this boy's spine after surgical straightening and pinning, see image M260/358.

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