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
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2000 Issue 5
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