Jeune Syndrome: Case Series Report

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Abstract

Jeune syndrome (synonym: asphyxiating thoracic dystrophy) is a rare genetically heterogeneous autosomal recessive disease, characterized by the development of generalized osteochondrodysplasia, anomalies of skeletal system with multi-organ involvement. This syndrome is based on mutations of the IFT80, DYNC2H1, WDR19, TTC21B genes localized in the locus of chromosomes 3q25.33, 11q22.3, 4p14, 2q24.3 respectively and mutation in the locus of chromosome 15q13 too. These genes play an important role in functioning of cilia in the mammalian body. These organelles participate in the development of the skeletal and hepatobiliary system, nephrons, retina, and other structures of the body. Thurs Jeune syndrome belongs to the ciliopathies. The article presents modern literature findings on genetics, pathogenesis, its clinical, X-ray presentations and CT patterns, diagnosis and treatment of this rare disease. The article also presents the first Russian case series including 7 patients with this disease. Combinations of such symptoms as narrow bell-shaped thorax, variable limb shortness, respiratory failure, including oxygen dependence, recurrent respiratory infections, and motor development delay in observed patients helped to diagnose Jeune syndrome in all cases. 

About the authors

D. Yu. Ovsyannikov

Peoples’ Friendship University of Russia, Moscow

Author for correspondence.
Email: mdovsyannikov@yahoo.com
MD, PhD Россия

E. V. Stepanova

Peoples’ Friendship University of Russia, Moscow

Email: katya_step@mail.ru
student Россия

M. A. Belyashova

Peoples’ Friendship University of Russia, Moscow

Email: belyashova@gmail.com
MD, internship Россия

E. A. Degtyareva

Peoples’ Friendship University of Russia, Moscow;
Pediatric Infectious Diseases Hospital No 6, Moscow

Email: dib6@yandex.ru
MD, PhD, Professor Россия

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