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Article

Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene.

Virchows Archiv : an international journal of pathology - 1 Aug 2021

Frigola Gerard, Del Rincón Olga Gómez, Florián Virginia Borobio, Fita Anna Vallmajó, Campos Berta, Pauta Montse, Puimedon Maria Segura, Oliva Rafael, Borrell Antoni, Nadal Alfons

Abstract excerpt

Steel syndrome (STLS) encompasses characteristic facies, dwarfness, irreducible bilateral hip and radial head dislocation, and carpal bone coalition due to COL27A1 mutations. Two consecutive pregnancies in a non-consanguineous couple were terminated because of severe fetal anomalies. Complete autopsies with microscopic exam were performed on both fetuses. Next-generation-based clinical exome sequencing was...

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Source

Identifiers

PMID: 33411029
DOI: 10.1007/s00428-020-02979-2

Genes

COL27A1

Variants

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene.PMID 33411029Read ↗

First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature.Semantic proximity Read ↗

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.Semantic proximity Read ↗

A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia.Semantic proximity Read ↗

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.Semantic proximity Read ↗

De novo mutation in COL2A1 leads to lethal foetal skeletal dysplasia.Semantic proximity Read ↗

Steel syndrome: Report of three patients, including monozygotic twins and review of clinical and mutation profiles.Semantic proximity Read ↗

Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome SequencingSemantic proximity Read ↗

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A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.Semantic proximity Read ↗

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