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Mild form of Jeune syndrome in two sisters

1990; Wiley; Volume: 35; Issue: 2 Linguagem: Inglês

10.1002/ajmg.1320350227

1096-8628

P. L. Giorgi, Orazio Gabrielli, V. Bonifazi, Carlo Catassi, Giovanni V. Coppa,

Autoimmune and Inflammatory Disorders

Abstract Jeune syndrome is characterized by respiratory distress, osseous dysplasia, and short stature. Patients generally die during the first months of life. However, some cases with milder clinical manifestations have been described; these cases show characteristic renal involvement of different severity. The authors report on two cases of the mild form of Jeune syndrome in sisters.