Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments

BACKGROUND: Osteogenesis imperfecta (OI) is a clinical and genetic heterogeneous group of connective tissue disorders, characterized by bone fragility and a propensity to fracture. METHODS: In this report we describe the clinical phenotype of two patients, a 28‐year‐old woman and her mother (54 year...

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Autores principales: Clewemar, Pantelis, Hailer, Nils P., Hailer, Yasmin, Klar, Joakim, Kindmark, Andreas, Ljunggren, Östen, Stattin, Eva‐Lena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625150/
https://www.ncbi.nlm.nih.gov/pubmed/31099171
http://dx.doi.org/10.1002/mgg3.723
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author Clewemar, Pantelis
Hailer, Nils P.
Hailer, Yasmin
Klar, Joakim
Kindmark, Andreas
Ljunggren, Östen
Stattin, Eva‐Lena
author_facet Clewemar, Pantelis
Hailer, Nils P.
Hailer, Yasmin
Klar, Joakim
Kindmark, Andreas
Ljunggren, Östen
Stattin, Eva‐Lena
author_sort Clewemar, Pantelis
collection PubMed
description BACKGROUND: Osteogenesis imperfecta (OI) is a clinical and genetic heterogeneous group of connective tissue disorders, characterized by bone fragility and a propensity to fracture. METHODS: In this report we describe the clinical phenotype of two patients, a 28‐year‐old woman and her mother (54 years old), both with a history of short stature and multiple fractures. RESULTS: Exome sequencing revealed the recurring IFITM5:c.‐14 C>T variant causing OI type V. Both patients had several fractures during childhood. CT‐scan and scintigraphy showed ossification of the origin and attachment of muscles and hypertrophic callus formation. CONCLUSION: Ossification of the origin and attachment of muscles seems to be part of the phenotype in patients with OI type V.
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spelling pubmed-66251502019-07-17 Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments Clewemar, Pantelis Hailer, Nils P. Hailer, Yasmin Klar, Joakim Kindmark, Andreas Ljunggren, Östen Stattin, Eva‐Lena Mol Genet Genomic Med Original Articles BACKGROUND: Osteogenesis imperfecta (OI) is a clinical and genetic heterogeneous group of connective tissue disorders, characterized by bone fragility and a propensity to fracture. METHODS: In this report we describe the clinical phenotype of two patients, a 28‐year‐old woman and her mother (54 years old), both with a history of short stature and multiple fractures. RESULTS: Exome sequencing revealed the recurring IFITM5:c.‐14 C>T variant causing OI type V. Both patients had several fractures during childhood. CT‐scan and scintigraphy showed ossification of the origin and attachment of muscles and hypertrophic callus formation. CONCLUSION: Ossification of the origin and attachment of muscles seems to be part of the phenotype in patients with OI type V. John Wiley and Sons Inc. 2019-05-16 /pmc/articles/PMC6625150/ /pubmed/31099171 http://dx.doi.org/10.1002/mgg3.723 Text en © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Original Articles
Clewemar, Pantelis
Hailer, Nils P.
Hailer, Yasmin
Klar, Joakim
Kindmark, Andreas
Ljunggren, Östen
Stattin, Eva‐Lena
Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
title Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
title_full Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
title_fullStr Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
title_full_unstemmed Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
title_short Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
title_sort expanding the phenotypic spectrum of osteogenesis imperfecta type v including heterotopic ossification of muscle origins and attachments
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625150/
https://www.ncbi.nlm.nih.gov/pubmed/31099171
http://dx.doi.org/10.1002/mgg3.723
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