Campeau-Reinhardt collaboration links fibronectin mutations to a scoliosis and bone malformations

Published: 3 November 2017

Unique collaboration between Shriners Hospitals for Children - Canada, CHU Sainte-Justine and McGill University leads to a publication in The American Journal of Human Genetics

The adventure began when Amaya's pediatrician observed that in addition to an abnormal thigh fold, the infant's hips were not quite aligned. Amaya was referred to Shriners Hospitals for Children – Canada. Reggie Hamdy, M.D., the hospital's chief physician, then conducted extensive examinations, identifying Amaya's hip deformity and scoliosis. The Shriners team suspected a genetic cause and referred Amaya to Philippe Campeau, M.D., a geneticist specialized in bone diseases, who works at both Canada Shriners Hospitals and CHU Sainte-Justine, to perform genetic tests and ultimately identify the faulty molecular mechanism.

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