Jarcho-Levin syndrome term baby with recurrent apnea

Authors

  • Sahana Devadas Department of Pediatrics, Vanivilas Hospital, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India
  • Varun Govindarajan Department of Pediatrics, Vanivilas Hospital, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India http://orcid.org/0000-0002-3323-2030
  • Anil Kumar Hanumanna Department of Pediatrics, Vanivilas Hospital, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India
  • Chethana Gowda Department of Pediatrics, Vanivilas Hospital, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India http://orcid.org/0000-0002-4304-6725
  • Mallesh Kariyappa Department of Pediatrics, Vanivilas Hospital, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20212489

Keywords:

Skeletal dysplasia, Spondylothoracic dysplasia, Jarcho Levin syndrome, Polythelia, Hemivertebra, Rib anomaly

Abstract

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.

Author Biographies

Sahana Devadas, Department of Pediatrics, Vanivilas Hospital, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Professor, Neonatologist, Department of Paediatrics

Varun Govindarajan, Department of Pediatrics, Vanivilas Hospital, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Junior Resident, Department of Paediatrics

Anil Kumar Hanumanna, Department of Pediatrics, Vanivilas Hospital, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Assistant Professor, Department of Paediatrics

Chethana Gowda, Department of Pediatrics, Vanivilas Hospital, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Junior Resident, Department of Paediatrics

Mallesh Kariyappa, Department of Pediatrics, Vanivilas Hospital, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Professor and HOD, Department of Paediatrics

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.

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Published

2021-06-24

Issue

Section

Case Reports