The authors describe a dysmorphic neonate with malformation of the genitals and electrolyte disorders, where Smith-Lemli-Opitz syndrome with impaired cholesterol biosynthesis was confirmed. They emphasize that electro- lyte disorders are a new hitherto not known phenotypic sign of this rehashed metabolic-malformation syndrome which has to be taken into consideration in the differential diagnosis of congenital adrenal hyperplasia with impaired salt metabolism.

        Key words: Smith-Lemli-Opitz syndrome, impaired cholesterol biosynthesis, neonate, congenital adrenal