Spondylo-Thoracic Dysplasia: Survival, a Rare Occurrence

Spondylo-thoracic dysplasia (STD) is a set of rare congenital abnormalities involving the vertebrae and thorax, leading to significant morbidity and mortality due to respiratory insufficiency and associated anomalies. Clinically, neonates present with scoliosis, vertebral segmentation defects, and severe respiratory compromise, resulting in early neonatal death. These children have a unique patho-anatomy of volume depletion deformity of the thorax, resulting in thoracic insufficiency. Hence, long-term complications such as restrictive lung disease, recurrent chest infections, and pulmonary hypertension need to be meticulously assessed. We report the case of a one-day-old newborn, a term male baby, who had respiratory distress and swelling over the left lower chest since birth. Clinical examination revealed a soft, non-pulsatile, compressible, and reducible swelling on the left hypochondrium and fine crepitations in bilateral basal lung fields. The baby had a short neck with an upper segment to lower segment ratio of 1:2.7 and scoliosis. Investigations including a chest X-ray showed crab rib deformity with scoliosis, displacement of the left lower ribs, and fusion of spondylo-costal joints. Ultrasound of the abdomen revealed a left lateral abdominal wall defect and herniation of bowel loops posterior to the spleen. Computed tomography (CT) of the thorax and abdomen showed ground-glass opacities in bilateral lung fields, right mediastinal shift, hemivertebrae of D6, D7, and D8, a bifid eighth vertebral head, an absent left eighth rib, and spina bifida of L4 to S5 vertebrae. A clinico-radiological diagnosis of STD was made. The baby was managed conservatively, discharged, and was followed up routinely until the age of one year. Our case is one of the few variants of STD with an absent rib, post-splenic intestinal herniation, classical crab rib deformity, hemivertebrae, and spina bifida that has survived the neonatal period and infancy, thus providing an opportunity for further understanding and treatment of the disease process through future follow-ups. To the best of our knowledge, our case is the first case of STD from Eastern India to survive infancy with these features. Early recognition, workup, and follow-up of these babies are essential to monitor growth patterns and associated comorbidities. Hence, any case of congenital deformity with recurrent pregnancy loss should undergo complete clinico-radiological evaluation with genetic counseling and long-term monitoring for prompt management of associated morbidities.