Mental retardation syndrome with renal concentration deficiency and intracerebral calcification.
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.
Schofer
O
O
Department of Paediatrics, Universitätskliniken, Mainz, Federal Republic of Germany.
Beetz
R
R
Bohl
J
J
Bornemann
A
A
Oepen
J
J
Spranger
J
J
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D001927:Brain Diseases / Q000473:pathology*; D002114:Calcinosis / Q000473:pathology*; D002648:Child; D003919:Diabetes Insipidus / Q000378:metabolism*; D004392:Dwarfism / Q000473:pathology*; D005190:Family; D006801:Humans; D008607:Intellectual Disability; D007671:Kidney Concentrating Ability; D008297:Male; D013577:Syndrome