Asphyxiating thoracic dysplasia (Jeune syndrome)
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).Mirzakhmetova D.D., Khoroshilova I.G., Aipeisova A.Zh., Bogach M.A., Efimenko I.G.
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.
Keywords
intrapartum death
early neonatal death
respiratory distress syndrome
asphyxiating thoracic dysplasia
Jeune syndrome
osteochondrodysplasia
ciliopathy
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Received 29.04.2022
Accepted 02.08.2022
About the Authors
Dinara D. Mirzakhmetova, MD, MPH, PhD, obstetrician-gynecologist, Chairman of the Board of Joint-Stock Company “The Scientific Center of Obstetrics, Gynecology and Perinatology”, +7(727)300-45-46, d.mirzakhmetova@mail.ru, https://orcid.org/0000-0002-6329-5999, A25D6G4 (050020), Republic of Kazakhstan, Almaty city,Dostyk Avenue, 125.
Irina G. Khoroshilova, MD, student PhD, geneticist at the Republican Medical Genetic Consultation, Joint-Stock Company “The Scientific Center of Obstetrics, Gynecology
and Perinatology”, +7(727)300-46-16, ira_horoshilova@mail.ru, https://orcid.org/0000-0001-9088-4847, A25D6G4 (050020), Republic of Kazakhstan, Almaty city,
Dostyk Avenue, 125.
Aisulu Zh. Aipeissova, obstetrician-gynecologist, Head of Clinical and Diagnostic Department, Joint-Stock Company “The Scientific Center of Obstetrics, Gynecology and Perinatology”, +7(727)300-45-69, aislusha@list.ru, https://orcid.org/0000-0001-8452-7341, A25D6G4 (050020), Republic of Kazakhstan, Almaty city, Dostyk Avenue, 125.
Marina A. Bogach, neonatologist at the Department of Neonatal Pathology, Joint-Stock Company “The Scientific Center of Obstetrics, Gynecology and Perinatology”, +7(727)300-45-23, MARINABOGAC63@mail.ru, https://orcid.org/0000-0001-7456-7972, A25D6G4 (050020), Republic of Kazakhstan, Almaty city, Dostyk Avenue, 125.
Irina G. Yefimenko, pathologist, Head of the Department of Pathomorphology and Prosection, Joint-Stock Company “The Scientific Center of Obstetrics, Gynecology and Perinatology”, +7(727)300-46-25, Рatolog-efimenko@mail.ru, https://orcid.org/0000-0001-8417-6297, A25D6G4 (050020), Republic of Kazakhstan, Almaty city,
Dostyk Avenue, 125.
Corresponding author: Irina G. Khoroshilova, ira_horoshilova@mail.ru
Authors' contributions: Mirzakhmetova D.D., Khoroshilova I.G. – responsible for data integrity, development of the concept and design of the investigation, preparation of the manuscript; Khoroshilova I.G., Aipeisova A.Zh., Bogach M.A., Efimenko I.G. – providing materials on the clinical cases described in the manuscript.
Conflicts of interest: The authors declare that there are conflicts of interest.
Funding: This investigation has not been sponsored.
For citation: Mirzakhmetova D.D., Khoroshilova I.G., Aipeisova A.Zh., Bogach M.A., Efimenko I.G. Asphyxiating thoracic dysplasia (Jeune syndrome).
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2022; 8: 176-180 (in Russian)
https://dx.doi.org/10.18565/aig.2022.8.176-180
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