Caudal Regression Syndrome

Abstract

Case A white female with an uncomplicated history of birth delivery and a familial history of diabetes mellitus presented to the orthopaedic clinic at the age of 16 months old with bowel dysfunction, inability to walk, one kidney, and a gibbus noted at T12. A “frog-like” appearance was noted of the lower extremities with webbing of the popliteal space (Fig. 1). Although some strength of the hip flexor muscles was present, no muscle function was noted at the feet and ankles. Plain radiographic evaluation noted total absence of the sacrum, partial absence of the L5 vertebra, hemivertebrae, and left-sided congenital scoliosis (Figs. 1 & 2). The patient eventually underwent spinal fusion and bilateral knee disarticulations. At 19 years of age, the patient continues to wear cosmetic knee prosthesis with attached back support and is confined to a wheelchair. Caudal regression syndrome (CSR) is a severe congenital condition characterised as premature termination of the spinal column with or without associated soft tissue, osseous, Caudal Regression Syndrome Dino Samartzis,1,2DSc, MSc, Dip EBHC, Francis H Shen,2,3MD