title: [The Smith-Lemli-Opitz syndrome--case report, early diagnosis].
abstract: Smith-Lemli-Opitz syndrome (SLOS) is one of the most frequent metabolic disorders in Poland and manifests itself with multiple congenital anomalies, psychomotor delay and intellectual disability. It is caused by mutations in DHCR7 gene, which codes one of the cholesterol biosynthesis enzymes. Clinical diagnosis of the syndrome is difficult due to lack of pathognomonic features and their variable expression. Despite high carrier frequency in Poland, SLO syndrome is rarely suspected and recognized. Its early diagnosis is essential, mainly because of high genetic risk (25%) as well as possibilities of treatment. Authors present a female-newborn, diagnosed with SLOS during the neonatal period. The diagnosis was based on biochemical and molecular tests. Mutations in DHCR7 gene have been found in both, the child and the parents.
authors.affiliation: Klinika Neonatologii Katedry Połoznictwa i Ginekologii S.A.M. w Katowicach. zosia_walencka@tlen.pl
authors.forename: Zofia
authors.initials: Z
authors.lastname: Walencka
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Baumert
authors.forename: Magdalena
authors.initials: M
authors.lastname: Paprotny
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Jezela-Stanek
authors.forename: Ewa M
authors.initials: EM
authors.lastname: Małunowicz
authors.forename: Jerzy
authors.initials: J
authors.lastname: Sikora
mesh_terms: D002784:Cholesterol / Q000097:blood; D005260:Female; D015870:Gene Expression; D006801:Humans; D007231:Infant, Newborn; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
chemical_list: D002784:Cholesterol