title: Schimke immuno-osseous dysplasia: case report and review of 25 patients.
abstract: 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.
authors.affiliation: Consulta de Genética, Hospital Pediátrico de Coimbra, Portugal.
authors.forename: J M
authors.initials: JM
authors.lastname: Saraiva
authors.forename: A
authors.initials: A
authors.lastname: Dinis
authors.forename: C
authors.initials: C
authors.lastname: Resende
authors.forename: E
authors.initials: E
authors.lastname: Faria
authors.forename: C
authors.initials: C
authors.lastname: Gomes
authors.forename: A J
authors.initials: AJ
authors.lastname: Correia
authors.forename: J
authors.initials: J
authors.lastname: Gil
authors.forename: N
authors.initials: N
authors.lastname: da Fonseca
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D006801:Humans; D007674:Kidney Diseases / Q000150:complications; D008231:Lymphopenia / Q000150:complications; D008297:Male; D010009:Osteochondrodysplasias / Q000145:classification / Q000150:complications / Q000000981:diagnostic imaging*; D010388:Pelvis / Q000000981:diagnostic imaging; D010641:Phenotype; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging; D013577:Syndrome