Spondylocostal dysostosis 1 - case report and literature review

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 prese...

Full description

Saved in:
Bibliographic Details
Main Authors: Elżbieta Drachal (Author), Paweł Zapolnik (Author), Łukasz Dembiński (Author), Michał Zgurski (Author), Antoni Pyrkosz (Author)
Format: Book
Published: Termedia Publishing House, 2023-03-01T00:00:00Z.
Subjects:
Online Access:Connect to this object online.
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
Item Description:0031-3939
2300-8660
10.5114/polp.2023.126112