Nail patella syndrome. A 55-year follow-up of the original description

The long-term skeletal changes and the lack of significant clinical complaints in a 77-year-old woman with nail patella syndrome are described. Fifty-five years previously she was one of the first reported patients. These early patients came from two families with involvement of multiple individuals with the variable constellation of deformities. We reviewed her skeletal natural history and her family history as it related to nail patella syndrome involvement and treatment, and correlated the original premolecular biology description and subsequent long-term follow-up with the current molecular and genetic concepts of the cause of the variable expression of nail patella syndrome.