ASPHYXIATING THORACIC DYSPLASIA (JEUNE SYNDROME)
Mirzakhmetova D.D. Khoroshilova I.G. Aipeisova A.Zh. Bogach M.A. Efimenko I.G.
2022Bionika Media Ltd.
Akusherstvo i Ginekologiya (Russian Federation)
2022#2022Issue 8176 - 180 pp.
Background: Short-rib thoracic dysplasia (SRTD) is a group of skeletal ciliopathies that are characterized by a narrow chest, short ribs, and shortened tubular bones with or without polydactyly, with the high mortality associated with severe respiratory disorders in the intrapartum and early neonatal periods. One of these disorders is asphyxiating thoracic dysplasia (Jeune syndrome). Case report: The paper describes two clinical cases with asphyxiating thoracic dysplasia (Jeune syndrome) with a fatal outcome: intrapartum death of a full-term fetus due to asphyxia and early neonatal death of a premature newborn with respiratory distress syndrome. Conclusion: The presented clinical cases of respiratory disorders with a fatal outcome in a full-term fetus during labor and delivery and a premature newborn with Jeune syndrome may be of interest to ultrasound and medical genetics specialists for predicting fetal viability, to obstetrician/gynecologists for predicting the course of pregnancy and birth outcomes, and to neonatologists for predicting therapeutic outcomes.
asphyxiating thoracic dysplasia , ciliopathy , early neonatal death , intrapartum death , Jeune syndrome , osteochondrodysplasia , respiratory distress syndrome
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Research Center of Obstetrics, Gynecology, and Perinatology, Almaty, Kazakhstan
Research Center of Obstetrics
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Книга Публикация научной статьи Волощук 2026 Book Publication of a scientific article 2026