ArticleThe American journal of case reports2015
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.
Article in The American journal of case reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 22 citations in OpenAlex.
- Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review.Frontiers in endocrinology · 2026Pooled it
- Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature.Journal of endocrinological investigation · 2023Pooled it
- Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Functional and structural characterization ofFrontiers in endocrinology · 2026Article
- The Central Role of Cytochrome P450 Reductase (CPR) in Hyperoxic Lung Injury.Expert opinion on drug metabolism & toxicology · 2025Review
- In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase.Molecules (Basel, Switzerland) · 2022Article
- Craniofacial malformations and their association with brain development: the importance of a multidisciplinary approach for treatment.Odontology · 2020Review
- 46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.International journal of molecular sciences · 2019Review
- Review
- Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases.Diagnostic pathology · 2019Article
- Variability in Loss of Multiple Enzyme Activities Due to the Human Genetic Variation P284T Located in the Flexible Hinge Region of NADPH Cytochrome P450 Oxidoreductase.Frontiers in pharmacology · 2019Article
- B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.Journal of inherited metabolic disease · 2017Review
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4 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundPrenatal diagnosis of severe bone diseases is challenging and requires complete and precise analysis of fetal anomalies to guide genetic investigation and parental counselling. CASE REPORT: We report a rare case of Antley-Bixler syndrome prenatally diagnosed at 26 weeks' gestation by ultrasound and computed tomography in a 28-year-old woman with a history of early termination of pregnancy for "malposition of the inferior limbs". The prenatal ultrasound scan showed severe femoral bowing and frontal bossing. Taking into account the high probability of a recurrent severe skeletal disorder, a computed tomography (CT) scan was proposed. CT findings revealed bilateral femora deformation, craniosynostosis, severe midface hypoplasia, and radiohumeral synostosis. These anomalies strongly suggested Antley-Bixler syndrome. Sequencing of the POR gene in the fetus and the parents revealed compound heterozygous mutations in exon 9 and intron 7, both inherited from each parent, and this finding allowed genetic counseling.
conclusionsThe first step in the proper prenatal diagnosis of fetal bone disorders is the precise analysis of ultrasonographic images. However, when a severe fetal inherited disorder is strongly suspected in late mid-trimester, CT may be discussed and usefully contribute to diagnosis and prognosis assessment.
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