![](/f/f/edb99351d8b637542eaefa34ca48e89b.jpg)
Current issue
Archive
Manuscripts accepted
About the journal
Editorial board
Abstracting and indexing
Contact
Instructions for authors
Ethical standards and procedures
Editorial System
Submit your Manuscript
|
1/2023
vol. 98 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
Pediatr Pol 2023; 98 (1): 83-86
Online publish date: 2023/03/24
View
full text
Get citation
ENW EndNote
BIB JabRef, Mendeley
RIS Papers, Reference Manager, RefWorks, Zotero
AMA
APA
Chicago
Harvard
MLA
Vancouver
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 |