Mental retardation syndrome with renal concentration deficiency and intracerebral calcification

O Schofer; R Beetz; J Bohl; A Bornemann; J Oepen; J Spranger

doi:10.1007/BF01959397

Mental retardation syndrome with renal concentration deficiency and intracerebral calcification

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

Authors

O Schofer¹, R Beetz, J Bohl, A Bornemann, J Oepen, J Spranger

Affiliation

¹ Department of Paediatrics, Universitätskliniken, Mainz, Federal Republic of Germany.

PMID: 2133981
DOI: 10.1007/BF01959397

Abstract

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