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Larsen Syndrome and Associated Spinal Deformities
Larsen syndrome is a rare genetic disorder that affects the connective tissue within the body. The present narrative review aims to examine the genetic basis of Larsen syndrome, clarify its symptoms, and define all the existing therapeutic approaches. A comprehensive search was performed in the PubM...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411917/ https://www.ncbi.nlm.nih.gov/pubmed/37565102 http://dx.doi.org/10.7759/cureus.41655 |
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author | Siafaka, Angeliki Angelis, Stavros Piagkou, Maria Apostolopoulos, Alexandros Troupis, Theodore Filippou, Dimitrios |
author_facet | Siafaka, Angeliki Angelis, Stavros Piagkou, Maria Apostolopoulos, Alexandros Troupis, Theodore Filippou, Dimitrios |
author_sort | Siafaka, Angeliki |
collection | PubMed |
description | Larsen syndrome is a rare genetic disorder that affects the connective tissue within the body. The present narrative review aims to examine the genetic basis of Larsen syndrome, clarify its symptoms, and define all the existing therapeutic approaches. A comprehensive search was performed in the PubMed database. Inclusion criteria considered molecular and clinical studies, management and surgical treatment of related deformities, case reports of patients with the syndrome, reviews of the associated anomalies, articles whose full text is available in PubMed, and articles published in the English language. Larsen syndrome is caused by mutations in the FLNB gene, which encodes the cytoskeletal protein filamin B, crucial in the development of the skeleton. Symptoms include joint dislocations, characteristic facial features and anomalies of the spine. Larsen syndrome may be conservatively treated initially, although surgical intervention is usually required. Various surgical techniques, including posterior spinal fusion, anterior decompression, circumferential arthrodesis, and single-stage 360° fixation, have been proposed along with growth-sparing procedures. Preoperative and postoperative care and education ensure optimal results. Further research is needed to identify novel therapeutic modalities for this condition. |
format | Online Article Text |
id | pubmed-10411917 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-104119172023-08-10 Larsen Syndrome and Associated Spinal Deformities Siafaka, Angeliki Angelis, Stavros Piagkou, Maria Apostolopoulos, Alexandros Troupis, Theodore Filippou, Dimitrios Cureus Genetics Larsen syndrome is a rare genetic disorder that affects the connective tissue within the body. The present narrative review aims to examine the genetic basis of Larsen syndrome, clarify its symptoms, and define all the existing therapeutic approaches. A comprehensive search was performed in the PubMed database. Inclusion criteria considered molecular and clinical studies, management and surgical treatment of related deformities, case reports of patients with the syndrome, reviews of the associated anomalies, articles whose full text is available in PubMed, and articles published in the English language. Larsen syndrome is caused by mutations in the FLNB gene, which encodes the cytoskeletal protein filamin B, crucial in the development of the skeleton. Symptoms include joint dislocations, characteristic facial features and anomalies of the spine. Larsen syndrome may be conservatively treated initially, although surgical intervention is usually required. Various surgical techniques, including posterior spinal fusion, anterior decompression, circumferential arthrodesis, and single-stage 360° fixation, have been proposed along with growth-sparing procedures. Preoperative and postoperative care and education ensure optimal results. Further research is needed to identify novel therapeutic modalities for this condition. Cureus 2023-07-10 /pmc/articles/PMC10411917/ /pubmed/37565102 http://dx.doi.org/10.7759/cureus.41655 Text en Copyright © 2023, Siafaka et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Genetics Siafaka, Angeliki Angelis, Stavros Piagkou, Maria Apostolopoulos, Alexandros Troupis, Theodore Filippou, Dimitrios Larsen Syndrome and Associated Spinal Deformities |
title | Larsen Syndrome and Associated Spinal Deformities |
title_full | Larsen Syndrome and Associated Spinal Deformities |
title_fullStr | Larsen Syndrome and Associated Spinal Deformities |
title_full_unstemmed | Larsen Syndrome and Associated Spinal Deformities |
title_short | Larsen Syndrome and Associated Spinal Deformities |
title_sort | larsen syndrome and associated spinal deformities |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411917/ https://www.ncbi.nlm.nih.gov/pubmed/37565102 http://dx.doi.org/10.7759/cureus.41655 |
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