Juvenile variant of Schimke immunoosseous dysplasia

Am J Med Genet. 1994 Feb 1;49(3):266-9. doi: 10.1002/ajmg.1320490304.


We report on a 16-year-old girl with spondyloepiphyseal dysplasia, nephrotic syndrome, lymphopenia, and signs of defective cellular immunity. The manifestations are very similar to those reported by Spranger et al. [1991: J. Pediatr 119: 64-72] as Schimke immunoosseous dysplasia, except for age of onset. In Schimke immunoosseous dysplasia, growth retardations as an initial symptom is noted in early childhood and about 1 year after onset of progressive proteinuria. In our case the skeletal abnormality was noted at age 10 years as dislocation of the hip joints and the diagnosis of nephrotic syndrome was made at age 16 years. The findings strongly suggest that our patient has a juvenile variant of Schimke immunoosseous dysplasia.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Female
  • Humans
  • Immunity, Cellular / genetics
  • Immunologic Deficiency Syndromes / complications
  • Immunologic Deficiency Syndromes / genetics
  • Lymphopenia / complications
  • Lymphopenia / genetics
  • Nephrotic Syndrome / complications
  • Nephrotic Syndrome / genetics
  • Nephrotic Syndrome / pathology
  • Osteochondrodysplasias / complications
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Radiography