Nemaline myopathy is a rare congenital, hereditary, and neuromuscular disease characterized by hypotonia and diminished or loss of deep tendon reflexes of various degrees and usually non-progressive muscle weakness. Muscle weakness and hypotonia are the most prominent features, and most notably the facial muscles, neck and trunk flexor muscles, foot dorsiflexors and toe flexors are affected. Some patients may also have minor findings such as thin facial appearance, high palate, and pectus excavatum. Other atypical findings include arthrogryposis, central nervous system involvement, and congenital fractures.

Here we present a neonate diagnosed with nemaline myopathy presenting with hypotonia and bilateral femur fracture. This case has been presented in terms of emphasizing the necessity to consider nemaline myopathy with the other clinical findings and the importance of muscle biopsy in the diagnosis of hypotonia in the neonatal period.

Keywords: Femur fracture, Hypotonia, Nemaline myopathy, Neonate