Scoliosis in velo-cardio-facial syndrome

Abstract

Velo-cardio-facial (VCF) syndrome caused by 22q11.2 deletion is a common genetic condition with variable features including congenital heart defects, facial anomalies, palatal anomalies, and cognitive problems. Besides the main characteristics, various other anomalies have been noted, including musculoskeletal problems. Scoliosis has been mentioned but not emphasized as a common feature. The authors evaluated 20 patients for scoliosis and connective tissue anomalies who were consecutively diagnosed with VCF syndrome and 22q11.2 deletion at their clinics. The authors describe three children with VCF syndrome who had significant scoliosis and connective tissue findings. Two of these patients were initially referred to genetics for possible Marfan syndrome. The authors suggest that scoliosis should be considered a relatively common finding in patients with 22q11.2 deletion, and they should be monitored for this problem. In addition, 22q11.2 deletion should be among the diagnostic considerations in patients with unexplained scoliosis and developmental delay.