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Pinned spine in Sotos syndrome, X-ray

Pinned spine in Sotos syndrome, X-ray

M260/0358

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Credit

DR P. MARAZZI / SCIENCE PHOTO LIBRARY DR P. MARAZZI / SCIENCE PHOTO LIBRARY

Caption

Pinned spine in Sotos syndrome, image 2 of 2. Coloured X-ray of the straightened and pinned spine 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. This causes spinal deformities, which can be corrected surgically by the implantation of supporting metal pins (blue). The syndrome also causes 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. There is no cure, but some of the symptoms can be treated. See image M260/357 for the spine before pinning.

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