Extremely thinning ribs in severe congenital myopathy

A full-term boy born with global hypotonia, weakness, and respiratory insufficiency was finally diagnosed as X-linked centronuclear myopathy by whole exome sequencing, with a mutation in the MTM1 gene encoding myotubularin. In addition to the typical phenotypes, the infant had a distinctive feature in his chest x-ray, extremely thinning ribs. This was presumably due to scarcely antepartum work of breathing and may be an important suggestive indicator for skeletal muscle conditions.

Automated summary

A full-term boy born with global hypotonia, weakness, and respiratory insufficiency was diagnosed as X-linked centronuclear myopathy by whole exome sequencing. A distinctive feature in his chest x-ray, extremely thinning ribs, was observed, which may serve as an important indicator for skeletal muscle conditions.