Prenatal diagnosis of Smith-Lemli-Opitz syndrome based on recognition of fetal ambiguous genitalia in association with congenital heart disease
Julia Murlewska,
Sławomir Witkowski,
Agnieszka Gach
et al.
Abstract:Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disease caused by a mutation in the 7-dehydrocholesterol reductase gene (DHCR7) on chromosome 11, which leads to 7-dehydrocholesterol reductase enzyme defects. This results in the building up of toxic by-products of cholesterol production in the blood and the nervous system. All this affects the growth and development of human body systems. We presented a case of a fetus of a pregnant woman with a high-risk pregnancy after IVF. The patient was referre… Show more
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