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Pediatria Polska - Polish Journal of Paediatrics
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1/2023
vol. 98
 
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abstract:
Case report

Spondylocostal dysostosis 1 – case report and literature review

Elżbieta Drachal
1
,
Paweł Zapolnik
2
,
Łukasz Dembiński
3
,
Michał Zgurski
1
,
Antoni Pyrkosz
4

  1. Department of Paediatrics, Paediatric Endocrinology, and Diabetes, Clinical Provincial Hospital No. 2 in Rzeszow, Rzeszow, Poland
  2. College of Medical Sciences, University of Rzeszow, Rzeszow, Poland
  3. Department of Paediatric Gastroenterology and Nutrition, Medical University of Warsaw, Warsaw, Poland
  4. Department of Clinical Genetics, College of Medical Sciences, University of Rzeszow, Rzeszow, Poland
Pediatr Pol 2023; 98 (1): 83-86
DOI: https://doi.org/10.5114/polp.2023.126112
Online publish date: 2023/03/24
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Spondylocostal dysostosis (SCD) type 1 (also known as Jarcho-Levin syndrome) is a rare hereditary skeletal disorder. The mutation of the DLL3 gene leads to the Notch signalling pathway disorder, resulting in somitogenesis errors and numerous deformations within the spine and ribs. This article presents the diagnostic process of a 3-year-old girl suspected of SCD type 1. Performing Sanger method sequencing of the DLL3 gene and computed tomography imaging with 3D reconstruction allowed us to recognize the condition and confirm its molecular basis. We also performed array-based comparative genomic hybridization and detected an incidental finding – a terminal duplication in chromosome X. The whole clinical approach and special investigations may help clinicians recognise the disease and genetic counselling.
keywords:

short stature, Jarcho‐Levin syndrome (JLS), spondylocostal dysostosis (SCD), vertebral deformity