Clinical case report of the combined spondylocostal dysostosis-4 (Jarcho-Levin syndrome) and Sifrim-Hitz-Weiss syndrome in a newborn

Spondylocostal dysostosis is a rare hereditary disease that is accompanied by a violation of the segmentation of the spine. The features of the appearance of patients are characterized by spondylocostal dysplasia in the form of a shortened neck and a “crab-shaped” deformation of the chest due to the fusion of the distal and divergence of the proximal ribs. It belongs to orphan genetic diseases, Worldwide frequency of which is 1:200,000 newborns. To date, six genetic variants of this disease with different types of inheritance have been described as follows: autosomal recessive forms associated with the genes DLL3, MESP2, LFNG, HES7 (spondylocostal dysplasia-1), autosomal dominant form with the TBX6 gene (spondylocostal dysplasia-2), the inheritance of changes in the RIPPLY2 gene has not been established. Since the syndrome is a disease with low prevalence, patients need various diagnostic and screening tests with interdisciplinary evaluation of the results at different stages of their life. Early diagnosis of the disease is crucial for timely treatment and rehabilitation measures and further improvement of the quality-of-life prognosis for the child. Authors represent a clinical case of genetically confirmed spondylocostal dysostosis-4 in a child, during the examination of which a previously undescribed pathogenic variant of the nucleotide sequence in exon 4 of the HES7 gene in a homozygous state, a Sifrim-Hitz-Weiss syndrome, was detected. The presented clinical case is of a particular practical interest to geneticists, radiation diagnosticians, obstetricians-gynecologists and neonatologists in the context of the timely diagnosis problematics.