Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus.

Taiwanese journal of obstetrics & gynecology - 1 Aug 2017

Travessa André, Dias Patrícia, Rocha Pedro, Sousa Ana Berta

Abstract excerpt

OBJECTIVE: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith-Lemli-Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. CASE REPORT: A 28-year-old woman, gravida 1 para 0, performed chorionic villus sampling for fetal karyotyping at 13 weeks of gestation due to positive combined...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amniotic Fluid
Share to Chorionic Villi Sampling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Holoprosencephaly

Share to Homozygote

Share to Karyotype

Share to Prenatal Diagnosis

Share to Smith-Lemli-Opitz Syndrome

Source

Identifiers

PMID: 28805615
DOI: 10.1016/j.tjog.2017.01.012

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus.PMID 28805615Read ↗

Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.Semantic proximity Read ↗

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.Semantic proximity Read ↗

Holoprosencephaly at prenatal diagnosis: analysis of 28 cases regarding etiopathogenic diagnoses.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.Semantic proximity Read ↗

Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.Semantic proximity Read ↗

Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.Semantic proximity Read ↗

The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.Semantic proximity Read ↗

Mutational spectrum of Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome and the DHCR7 gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.