An incomplete form of lumbocostovertebral syndrome in association with atrial septal defect, arthrogryposis and clubfeet.

ABSTRACT

The present study describes a 9-month-old infant who presented with congenital lumbar hernia, kyphoscoliosis, atrial septal defect, congenital talipes equinovarus and arthrogryposis. To the best of our knowledge, this is the first case in English literature with this combination of defects. The case could be considered an incomplete form of the lumbocostovertebral syndrome. We also discuss the etiopathogenesis of these malformations.