Smithův-Lemliův-Opitzův syndrom

Title in English Smith-Lemli-Opitz syndrome
Authors

PROCHÁZKOVÁ Dagmar POUCHLÁ Slávka VINOHRADSKÁ Hana JIMRAMOVSKÝ Tomáš KOLBOVÁ Lucie KONEČNÁ Petra FAJKUSOVÁ Lenka

Year of publication 2018
Type Article in Periodical
Magazine / Source Pediatria
MU Faculty or unit

Faculty of Medicine

Citation
Web http://www.amedi.sk
Keywords Smith-Lemli-Opitz syndrome
Description Smith-Lemli-Opitz’s syndrome (SLOS) is an autosomal recessive hereditary metabolic disorder caused by mutations in the DHCR7 gene. It is characterized by multiple anomalies, primarily of the brain, skeleton, genitalia, but also of the heart, gastrointestinal system, typical facial dysmorphy, and various degrees of psychomotor retardation. Typical laboratory symptom is reduced blood total cholesterol and elevated 7-dehydrocholesterol. Wide phenotypic variability complicates the diagnosis of this disability. The authors present two patients with SLOS who were diagnosed at the Department of Pediatrics of the University Hospital in Brno.

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