Dysmorfný novorodenec s elektrolytovými poruchami

Dysmorphic Neonate with Electrolyte Disorders

The authors describe a dysmorphic neonate with malformation of the genitals and electrolyte disorders, whereSmith-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 syndromewhich has to be taken into consideration in the differential diagnosis of congenital adrenal hyperplasia withimpaired salt metabolism.

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