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01-08-2021 | Hip Dislocation | Brief Report

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

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

Published in: Virchows Archiv | Issue 2/2021

Abstract

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 applied to the first fetus. Exome sequencing results, parental segregation, and affection of the second fetus were confirmed by Sanger sequencing. Both fetuses had signs consistent with STLS. Bilateral capitulum humeri absence explained radial head dislocation in STLS. Metaphyseal cartilage showed severe disorganization. Resting cartilage was hypercellular, organized in irregular nests limited by acellular matrix. Two variants in COL27A1 (c.2548G>A -p.Gly850Arg- and c.3249+1G> T) were found in both fetuses in compound heterozygosity with parental Mendelian segregation. This is the first report to include histology of STLS. The COL27A1 variants here described increase the number of mutations associated with STLS.

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Title: Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene
Authors: Gerard Frigola
Olga Gómez del Rincón
Virginia Borobio Florián
Anna Vallmajó Fita
Berta Campos
Montse Pauta
Maria Segura Puimedon
Rafael Oliva
Antoni Borrell
Alfons Nadal
Publication date: 01-08-2021
Publisher: Springer Berlin Heidelberg
Keywords: Hip Dislocation
Osteochondrodysplasia
Published in: Virchows Archiv / Issue 2/2021
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-020-02979-2

At a glance: The STEP trials

Springer Medicine

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

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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