Heterogenność kliniczna i genetyczna dyzostoz twarzowych

Śmigiel, Robert; Jakubiak, Aleksandra; Błoch, Michał; Posmyk, Renata; Marszałek-Kruk, Bożena

doi:10.1016/j.pepo.2014.10.004

Cited by 2 publications

(1 citation statement)

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“…The term dysostosis is used to refer to diseases associated with impaired bone development, in particular the ossification process, which leads to the abnormal skeletal structure. One of the best known of these is mandibulofacial dysostosis, or Treacher Collins syndrome [6]. Much rarer is SCD, characterized by disorders of vertebral segmentation and the coexistence of anomalies in the structure of the ribs, which leads to growth deficiency and shortening of the chest.…”

Section: Discussionmentioning

confidence: 99%

Spondylocostal dysostosis 1 – case report and literature review

Drachal¹,

Zapolnik²,

Dembiński³

et al. 2023

polp

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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.

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Section: Discussionmentioning

confidence: 99%