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Dysmorphic Neonate with Electrolyte Disorders


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:

Overview

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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Labels
Neonatology Paediatrics General practitioner for children and adolescents
Topics Journals
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