Asphyxiating thoracic dystrophy (Jeune syndrome): the review of literature and case reports

• Dmitry Yu. Ovsyannikov
• E.V. Stepanova
• Belyashova M.A.
• A.V. Sholtoyanu
• I.R. Camsonovich
• A.A. Shokin
• Petruk Natalia I.
• L.P. Semenova
• Chusov Konstantin P.
• Igor M. Donin
• N.L. Valts
• Turina Irina E.
• S.V. Kolyagina
• Illarionova Tatyana Yu.
• A.M. Bolibok
• Degtyareva Elena A.
• Korsunsky A.A.
• Koltunov I.E.
• Nazarova Tatyana I.

Abstract

Asphyxiating thoracic dystrophy (Jeune syndrome) 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 resspectively and mutation in the locus of chromosome 15q13 too. These genes play a role in function of cilia in the mammalian body. 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, motor development delay in observed patients helped to diagnose Jeune syndrome at all cases.

Keywords:Jeune syndrome, asphyxiating thoracic dystrophy, genetics, respiratory failure, oxygen dependence, children, diagnostics, case reports

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