Asphyxiating thoracic dysplasia (Jeune syndrome)


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Abstract

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.

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About the authors

Dinara D. Mirzakhmetova

Research Center of Obstetrics, Gynecology, and Perinatology

Email: d.mirzakhmetova@mail.ru
MD, MPH, PhD, obstetrician-gynecologist, Chairman of the Board Almaty, Republic of Kazakhstan

Irina G. Khoroshilova

Research Center of Obstetrics, Gynecology, and Perinatology

Email: ira_horoshilova@mail.ru
MD, student PhD, geneticist at the Republican Medical Genetic Consultation Almaty, Republic of Kazakhstan

Aisulu Zh. Aipeisova

Research Center of Obstetrics, Gynecology, and Perinatology

Email: aislusha@list.ru
obstetrician-gynecologist, Head of Clinical and Diagnostic Department Almaty, Republic of Kazakhstan

Marina A. Bogach

Research Center of Obstetrics, Gynecology, and Perinatology

Email: marinabogac63@mail.ru
neonatologist at the Department of Neonatal Pathology Almaty, Republic of Kazakhstan

Irina G. Efimenko

Research Center of Obstetrics, Gynecology, and Perinatology

Email: atolog-efimenko@mail.ru
pathologist, Head of the Department of Pathomorphology and Prosection Almaty, Republic of Kazakhstan

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