Neonatal multiple long bone fractures: A case presentation due to nemaline myopathy and review of other potential causes

Abstract

Nemaline myopathy is a rare genetic disorder caused by a mutation in genes encoding skeletal muscle proteins resulting in generalized hypotonia. It can be associated with neonatal multiple long bone fractures. We present a female neonate who had bilateral humerus and left femur fractures. Due to fetal distress, her delivery was at 37 weeks gestation by emergency cesarean section. The child was splinted and followed up for 8 weeks. She had a good union of fractured bones, callus formation, and no deformity. Muscle biopsy showed nemaline myopathy. Other biochemical and genetic tests were normal. The aim of this case report was to describe the presentation of multiple long bone fractures in neonates as an obstetric complication. Therefore, identifying the potential risk factors and planning the mode of delivery in future pregnancies, is critical in their management.