Beckwith Wiedemann syndrome (BWS) is an overgrowth syndrome associated with macroglossia, omphalocele, macrosomia, asymmetry of the limbs(hemihypertrophy) and increase risk of embryonal cancer in infancy and early childhood. The risk of cancer is reportedly greater in children with limb asymmetry; however, the extent and magnitude has never been quantified. Due to the potential importance of identifying limb asymmetry, we systematically examined musculoskeletal abnormalities in 53 children with BWS. The age range was between 2 months and 13 years, the median age was 3.5 y. The evaluations included: 1) measures of extremity segments. 2) spine curvature and thoracic wall asymmetry and 3) joint alignment. Asymmetry of limbs was defined as a difference in girth or length greater than 10% when compared to the other side. Presence of scoliosis or asymmetry of the thoracic cage was determined on visual inspection. Joint alignment was assessed in frontal and sagittal planes and scored as present or absent. Asymmetry of one or more segments was present in 9 of 57 (16%) individuals, scoliosis or thoracic wall asymmetry was present in 37 of 57 (65%) individuals. Joint laxity was present in 40 out of 57 (70%) individuals. Only 11% of the children evaluated had no musculoskeletal abnormalities. Leg length discrepancies, scoliosis and joint laxity were clinically significant findings and required therapy in some patients. Therefore, periodic and thorough musculoskeletal evaluation should be performed on children with BWS.
