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Abnormal motor behavior at 23 weeks in a fetus with Smith–Lemli–Opitz syndrome (SLOS)
Author(s) -
Hagen Marleen A.,
Stuurman Kyra E.,
Vries Johanna I.
Publication year - 2013
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4133
Subject(s) - smith–lemli–opitz syndrome , fetus , pregnancy , phenotype , central nervous system , medicine , second trimester , biology , endocrinology , genetics , gene , enzyme , biochemistry , 7 dehydrocholesterol reductase , reductase
What's already known about this topic? Smith–Lemli–Opitz syndrome is an autosomal recessive disorder in which various organs can be affected and the phenotypic expression varies. Evaluation of the quality of fetal movements can support the distinction of a specific syndrome in case of multiple affected organs.What does this study add? With this case, we add early, in the second trimester of pregnancy, affected motor expression of the central nervous system.