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Article

Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.

The American journal of case reports - 16 Dec 2015

Oldani Elena, Garel Catherine, Bucourt Martine, Carbillon Lionel

Abstract excerpt

BACKGROUND: Prenatal 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...

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Share to Cytochrome P-450 Enzyme System
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Imaging, Three-Dimensional

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Source

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Identifiers

PMID: 26670660
DOI: 10.12659/ajcr.895526
PMCID: PMC4687943

Genes

POR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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