Unmasking probable spondylocostal dysostosis: A rare cause of infant respiratory distress

Spondylocostal dysostosis (SCDO) is a rare congenital disorder characterised by multiple vertebral segmentation defects and rib malformations, resulting in thoracic insufficiency and early respiratory compromise. We report a 5-month-old male infant, born to consanguineous parents, who presented with severe respiratory distress. Clinical examination revealed a short trunk, scoliosis, thoracic cage narrowing, and dysmorphic rib features. Radiographic evaluation demonstrated vertebral segmentation anomalies, butterfly vertebrae, and rib fusions, along with right-sided pulmonary consolidation. High-resolution computed tomography of the chest showed features of multifocal pneumonia, mild cardiomegaly, and sclerotic vertebrae at T7 and T4, with compensatory kyphoscoliotic deformity of the cervicothoracic spine. A small ventricular septal defect and mild hepatomegaly were also noted. Neurosonography was done and was normal. The infant required prolonged hospitalisation and was managed with high-flow nasal oxygen, antibiotics for pneumonia, chest physiotherapy, and nutritional support. Genetic testing was not feasible due to financial limitations, but the clinical and radiological features strongly supported a diagnosis of SCDO. This case highlights the importance of considering congenital vertebral– rib malformations in infants with unexplained respiratory distress, particularly in the context of consanguinity. Early recognition facilitates supportive care, timely referral, and long-term multidisciplinary management to address respiratory morbidity, skeletal deformities, and genetic counselling needs.