Despite the fact that Jeune syndrome is rather rare, neonatologists and pediatricians need to be aware of this pathology. This will facilitate early diagnostics of the condition and aid in the choice of the most adequate algorithms for its monitoring and treatment. The aim: To describe the case of Jeune syndrome among the Precarpathian population. Infant patient with Jeune syndrome and relevant medical records. Methods used in the study: clinical-genealogical and syndromal analysis, general clinical examination, radiologic method, including computed tomography (CТ) scan with 3D image reconstruction, methods of ultrasound diagnostics. The study was conducted in accordance with the Declaration of Helsinki Ethical Principles. The newborn baby was diagnosed with asphyxiating thoracic dystrophy on the basis of personal observation and conducted complex examination. According to the literature, this syndrome is rarely diagnosed in this age group. The diagnosis was based on the clinical and phenotypic manifestations of the syndrome, primarily on the characteristic association of symptoms of specific chest deformity and severe respiratory failure with oxygen dependence in the patient. Skeletal and pulmonary changes on radiographs and computed tomography scans were rather indicative. Brief follow-up data on the patient at the age of nine months are given.
Keywords: Precarpathian population; asphyxiating thoracic dystrophy; ciliopathy; oxygen dependence.