Spondylocostal dysostosis: A rare and remarkable syndrome

Spondylocostal dysostosis (SCD) is a rare autosomal recessive congenital disorder, characterized by a spectrum of clinical and radiographic abnormalities affecting the spine and chest. The key features of the syndrome include short stature, spinal abnormalities with vertebral malformations. These skeletal malformations result in a reduced thoracic cavity, leading to respiratory complications, often accompanied by frequent chest infections. Diagnosis is primarily made in newborn phase, based on characteristic physical appearance, symptoms of thoracic insufficiency, family history, skeletal surveys, and, when available, genetic testing for specific mutations. While the syndrome's severity varies, milder forms are compatible with life, while more severe cases present significant challenges in respiratory management. We report the case of a 9-year-old girl diagnosed with SCD based on clinical-radiological findings.