Diabetes Insipidus, Nephrogenic, With Mental Retardation And Intracerebral Calcification

Schofer et al. (1990) described 2 brothers with nephrogenic diabetes insipidus, intracerebral calcifications, defective psychomotor development, dwarfism, and peculiar facial appearance. The disorder had some resemblance to Cockayne syndrome (216400), from which, however, the authors thought it to be distinct. Another sib, a twin of one of the brothers, had the same condition and died at the age of 7 years. The oldest surviving brother was 147 cm tall at the age of 25 years.