Spondylocostal dysostosis: A rare case report

Abstract

Spondylocostal dysostosis (SCD), also known as Jarcho Levin syndrome, is a rare congenital dysostosis characterized by multiple congenital vertebral and rib anomalies. The child usually presents with respiratory distress at birth with eventual development of short trunk dwarfism. Associated congenital anomalies are rare; however, they need evaluation. We report a 6-month-old Indian girl with SCD who presented with respiratory distress and an asymmetrical small thoracic cavity. The diagnosis was made with radiographs, computed tomography scans, and magnetic resonance imaging (MRI) showing multiple rib and vertebral segmentation anomalies. We would also highlight the importance of MRI in these patients and illustrate other associated brain and spine anomalies.