AI Summary & Key Takeaways
AI InsightThis case is diagnosed with his clinical and imaging findings as spondylothoracic dysplasia and reported due to its rarity in the neonatal period.
📌 3 Key Takeaways
Abstract
Spondylothoracic dysplasia is a syndrome that is due to a defect during the segmentation process of the axial system presenting with multiple vertebral and costal malformation. Majority of affected individuals die in the infancy with cardiopulmonary insufficiency. The chief features of this syndrome are; short trunk with short neck and "crab-like" rib cage, spina bifida, multiple vertebral and rib defects. Our case is presented to the clinic with respiratory distress. In his x-ray of thoracic cage, multiple costavertebral defects are detected. In his spinal MRI images, cervical and lomber lordosis, dorsal kyphosis, scoliosis, generalized butterfly and hemivertebra anomalies are identified. This case is diagnosed with his clinical and imaging findings as spondylothoracic dysplasia and reported due to its rarity in the neonatal period.