Gülseren ŞAHİN, Miraç YILDIRIM, Esma UŞAK, Şit UÇAR, Pelin ZORLU

Jeune sendromu (asfiktik torasik displazi): Olgu sunumu

Jeune sendromu veya asfiktik torasik distrofi, küçük göğüs kafesi, kısa ekstremiteli cücelik, hepatik ve renal anomaliler ile karakterize, otozomal resesif, nadir bir iskelet displazisidir. 1/100.000-130.000 canlı doğumda görülür. Tanının doğrulanmasında radyoloji temeli oluşturur. Hastalığın prognozunu göğüs deformitesinin ağırlığı belirlemekte ve hastaların çoğu solunum problemleri ile ilk yaşta kaybedilmektedir. Tekrarlayan alt solunum yolu infeksiyonu nedeniyle kliniğimize başvuran ve Jeune sendromu tanısı koyulan 19 aylık kız hasta, nadir görülen bir hastalık olması nedeniyle sunuldu.

Jeune syndrome (asphyxiating thoracic dystrophy): A case report

Jeune syndrome or asphyxiating thoracic dystrophy is a rare autosomal recessive skeletal dysplasia characterized by a small thorax, short-limbed dwarfism, renal and hepatic anomalies. It is estimated to occur in 1 per 100.000-130.000 live births. Radiological confirmation of diagnosis is essential. Prognosis of the disease is due to the severity of chest deformities and most of the patients are lost in their first year because of respiratory problems. We presented a 19-month-old female patient who admitted to our clinic because of recurrent lower respiratory tract infections and diagnosed as Jeune syndrome and reported due to its rarity.

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