Published: 2022-09-17

Spondylocostal dysplasia: a rare cause of respiratory distress in term neonates

Anshul Bhargava, Sukena J. Susnerwala, Samandeep Kaur, Akshaya Krishna


Jarcho-Levin syndrome (JLS) also known as spondylocostal dysplasia is a rare congenital dysplastic disorder involving ribs and vertebrae. It as an autosomal recessive form of inheritance however dominant forms have also been reported. Multiple genes have been postulated to be causative, however exact genetic basis is not known. Infants usually present at birth with respiratory distress and have varying degree of thoracic and vertebral anomalies. We present a case of term male infant with a clinical diagnosis of JLS. The infant presented at birth with distress with no significant antenatal risk factors. On examination he was found to have a short neck, short trunk, accessory nipple with asymmetrical chest wall. X-ray suggested absent ribs (2-8) on left side with hemivertebrae (T3-T8). The baby was managed conservatively and is being followed up with neonatologists, orthopaedicians and pediatric surgeons.


Jarcho Levin, Neonate, Vertebrae, Rib

Full Text:



Vijayan S, Shah H. Spondylo-costal dysostosis with Sprengel's shoulder--Report of a new association with Jarcho-Levin syndrome. Kerala J Orthop. 2012;25(2).

Campbell Jr RM. Spine deformities in rare congenital syndromes: clinical issues. Spine. 2009;34(17):1815-27.

Kulkarni ML, Sarfaraz Navaz R, Vani HN, Manjunath KS, Matani D. Jarcho-Levin syndrome. Indian J Pediatrics. 2006;73(3):245-7.

Berdon WE, Lampl BS, Cornier AS, Ramirez N, Turnpenny PD, Vitale MG, Seimon LP, Cowles RA. Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). Pediatric Radiol. 2011;41(3):384-8.

Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S. A gene for autosomal recessive spondylocostal dysostosis maps to 19q13. 1-q13. 3. Am J Human Genet. 1999;65(1):175-82.

Durgaprasad BK, Sharma S, Vijayalakshmi P. A case report of Jarcho–Levin syndrome. J Fam Comm Med. 2021;28(1):55.

Asghar I, Zameer S, Khan TA, Zahid MA, Khan MH, Zameer NU. Jarcho-Levin syndrome in Pakistan: a case report and review of 321 cases on the principles of diagnosis and management. Cardiothoracic Surgeon. 2022;30(1):1-5.

Chandra N, Kumar S, Raj V, Vishwakarma PK, Sinha S, Saha RP. Jarcho-Levin syndrome with splenic herniation: a rare presentation. American J Case Rep. 2016;17:745.

Onay OS, Kınık ST, Ötgün Y, Arda IS, Varan B. Jarcho-Levin syndrome presenting with diaphragmatic hernia. Eur J Pediatric Surg. 2008;18(04):272-4.

Gangurde BA, Raut B, Mehta R, Thatte MR. The outcome of Jarcho-Levin syndrome treated with a functional latissimus dorsi flap-A series of three cases. Indian J Plastic Surg. 2012;45(01):40-4.

Herold HZ, Edlitz MI, Baruchin A. Spondylothoracic dysplasia. A report of ten cases with follow-up. Spine. 1988;13(5):478-81.

Hosalkar H, Thatte MR, Yagnik MG. Chest-wall reconstruction in spondylocostal dysostosis: rare use of a latissimus dorsi flap. Plastic Reconstructive Surg. 2002;110(2):537-40.