[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.
Uçar
Sit
S
Pediatry Clinic, Dr. Sami Ulus Obstetrics, Children Health and Diseases Research and Education Hospital, Ankara, Turkey. situcar@gmail.com
Zorlu
Pelin
P
Sahin
Gülseren
G
Yildirim
Miraç
M
Uşak
Esma
E
D000015:Abnormalities, Multiple; D001237:Asphyxia / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000473:pathology*; D011379:Prognosis; D011859:Radiography; D012008:Recurrence; D012141:Respiratory Tract Infections / Q000453:epidemiology / Q000209:etiology*; D013577:Syndrome; D013896:Thoracic Diseases / Q000000981:diagnostic imaging / Q000473:pathology*; D013909:Thorax / Q000002:abnormalities*