Mental retardation syndrome with renal concentration deficiency and intracerebral calcification

Eur J Pediatr. 1990 Apr;149(7):470-4. doi: 10.1007/BF01959397.


Two siblings are reported with a unique association of nephrogenic diabetes insipidus, intracerebral calcifications, defective psychomotor development, dwarfism and peculiar facial appearance. The disorder is to be differentiated from similar disorders, notably the Cockayne syndrome.

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Brain Diseases / pathology*
  • Calcinosis / pathology*
  • Child
  • Diabetes Insipidus / metabolism*
  • Dwarfism / pathology*
  • Family
  • Humans
  • Intellectual Disability*
  • Kidney Concentrating Ability
  • Male
  • Syndrome