Congenital musculoskeletal anomalies — key radiographic findings

Although radiographs are generally performed in the neonatal period to evaluate for causes of respiratory distress or to evaluate line placement, close attention to the osseous structures can provide important clues to an underlying diagnosis. Although segmentation anomalies can be random, they are frequently associated with more complex entities such as VACTERL association. A butterfly vertebral body can hint at a possible diagnosis of Alagille syndrome even before jaundice develops in an infant with a murmur. Close evaluation of the sacrum can identify abnormalities that point to caudal regression or Currarino triad. Other classic musculoskeletal abnormalities in the extremities are readily apparent on physical exam but require radiographic evaluation to define anatomy. Diagnoses such as congenital pseudoarthrosis of the clavicle, Apert syndrome, constriction band syndrome, and proximal focal femoral deficiency have pathognomonic imaging findings. Given that treatment for these is usually delayed until later in life, extremity imaging might not occur in the neonatal period.