TY - JOUR T1 - Schimke immuno-osseous dysplasia: case report and review of 25 patients JF - Journal of Medical Genetics JO - J Med Genet SP - 786 LP - 789 DO - 10.1136/jmg.36.10.786 VL - 36 IS - 10 AU - Jorge M Saraiva AU - Alexandra Dinis AU - Cristina Resende AU - Emília Faria AU - Clara Gomes AU - A Jorge Correia AU - Júlia Gil AU - Nicolau da Fonseca Y1 - 1999/10/01 UR - http://jmg.bmj.com/content/36/10/786.abstract N2 - Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The differences between the two groups are not striking, and although similarities are greater between affected sibs, the same diagnosis of Schimke immuno-osseous dysplasia should apply to them all. The aetiology and physiopathology of this rare osteochondrodysplasia of presumed autosomal recessive inheritance remain unknown. ER -