Authors: V. Bzdúch 1; D. Behúlová 2; I. Letenayová 1; J. Škodová 2; E. Franková 1 Authors‘ workplace: 1. detská klinika LFUK a DFNsP, Bratislava 1 Published in: Čes-slov Pediat 2000; (5): 338-340. Category:
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
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