Tekrarlayan akciğer enfeksiyonunun nadir bir nedeni: Jeune sendromu

Otozomal resesif geçişli bir hastalık olan Jeune sendromu, birçok sistem tutulumu ile giden nadir bir iskelet displazisidir. Asfiktik torasik distrofi olarak da bilinen bu hastalıkta, solunum sıkıntısına yol açan çan şeklinde dar göğüs kafesi, kısa ekstremiteli cücelik ve pelvik kemik anomalileri en tipik muayene bulgularıdır. Tekrarlayan alt solunum yolu enfeksiyonu nedeniyle kliniğimize başvuran ve Jeune sendromu tanısı koyulan 7 aylık kız çocuk, nadir görülen bir hastalık olması nedeniyle sunulmuştur.

A rare cause of recurrent pulmonary infection: Jeune syndrome

Jeune syndrome, is a rare autosomal recessive skeletal dysplasia characterized by multisystem involvement. In this disease, otherwise called as “asphyxiating thoracic dystrophy”, bell-shaped narrow thorax that leads to respiratory distress, short-limbed dwarfism, and typical pelvic abnormalities are the most common clinical signs. Herein we present a 7-month-old girl who admitted to our clinic because of recurrent lower respiratory tract infection and diagnosed as Jeune syndrome and we report the case due to its rarity.

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