Fetal diagnosis of spondylocostal dysplasia: Limits of conventional fetal ultrasound & MRI in diagnosing anomalies

We present a case of postnatally recognized spondylocostal dysplasia that was prenatally misdiagnosed as fetal thoracolumbar kyphoscoliosis secondary to spinal fusion anomalies. Neither two-dimensional ultrasound nor MRI identified the rib anomalies, nor did they allow for correct identification of the more compromised lung. Spondylocostal and spondylothoracic dysostoses involve rib deformities and distortion of the bony thorax that lead to pulmonary compromise. Correct prenatal diagnosis might not be made with standard fetal imaging. Three-dimensional ultrasound should be pursued (when available) upon recognition of a thoracic scoliosis to fully assess rib development.