Jarcho-Levin syndrome term baby with recurrent apnea
DOI:
https://doi.org/10.18203/2349-3291.ijcp20212489Keywords:
Skeletal dysplasia, Spondylothoracic dysplasia, Jarcho Levin syndrome, Polythelia, Hemivertebra, Rib anomalyAbstract
Jarcho-Levin syndrome or spondylocostal dysostosis, is a rare axial skeleton anomaly due to mutation in genes involved in somitic segmentation during embryogenesis. We describe a term, newborn baby with antenatally detected midthoracic lordotic deformity with skeletal features of multiple rib anomalies and vertebral defects, but with normal limb lengths. Baby had recurrent apnea requiring non-invasive ventilation and was successfully weaned to room air within 2 days. This syndrome is underdiagnosed and we wish to highlight the simple process involved in making a clinico-radiological diagnosis.
Metrics
References
Jones KL, Jones MC, Casanelles MDC. Smith’s recognisable patterns of human malformation. 7th ed. Elsevier Saunders; 2013.
Jarcho S, Levin PM. Hereditary malformations of the vertebral bodies. Johns Hopkins Med J. 1938;62:216.
Berdon WE, Lampl BS, Cornier AS, Ramirez N, Turnpenny PD, Vitale MG, et al. Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). Pediatr Radiol. 2011;41(3):384-8.
Rai N, Thakur N. Case series of spondylocostal dysostosis and associated congenital malformations. J Clin Neonatol. 2016;5:209-12.
Schulman M, Gonzalez MT, Bye RM. Airway abnormalities in Jarcho-Levin syndrome: A report of two cases. J Med Genet. 1993;30:875-6.
Teli M, Hosalkar H, Gill I, Noordeen H. Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means. Spine. 2004;29(13):1447-51.
Southam BR, Schumaier AP, Crawford AH. Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient. Case Rep Orthop. 2018;1795083.