Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review

INTRODUCTION: Most cases of caudal regression are sporadic or associated with gestational/maternal diabetes. The condition is thought to be part of a spectrum including imperforate anus, sacral agenesis and sirenomelia. Infants of diabetic mothers have two to three times the average incidence of congenital anomalies. CASE PRESENTATION: We report on a 7-year-old boy from non-consanguineous family in Austria was born with features of caudal regression syndrome. A constellation of malformation complex such as caudal regression syndrome and anorectal malformation complex were evident at birth. Of great interest was the abnormal articulation between the pelvis and the remaining abnormal spine. Spinal-pelvic instability, dislocation of the hip, and knee-flexion contracture associated with popliteal webbing were the major orthopaedic abnormalities. CONCLUSION: We showed that an offspring of a diabetic mother was at significant risk of developing caudal regression syndrome. Our present patient demonstrated type1 of Welch and Aterman classification. There was total sacral agenesis associated with subtotal lumbar agenesis. The lowest vertebrae were resting above an iliac amphiathrosis. We strongly encourage primary care providers to discuss the consequences of maternal diabetes mellitus as part of routine anticipatory guidance for antenatal/prenatal management. Careful diabetic control in the preconceptional period and the first eight weeks of pregnancy may lower the chances of congenital anomalies.