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.

Citation

Sit Uçar, Pelin Zorlu, Gülseren Sahin, Miraç Yildirim, Esma Uşak. Jeune syndrome (asphyxiating thoracic dystrophy): a case report]. Tüberküloz ve toraks. 2009;57(4):413-6

Mesh Tags

PMID: 20037857

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