Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Siafaka, Angeliki, Angelis, Stavros, Piagkou, Maria, Apostolopoulos, Alexandros, Troupis, Theodore, Filippou, Dimitrios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
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
_version_ 1785086772841021440
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
work_keys_str_mv AT siafakaangeliki larsensyndromeandassociatedspinaldeformities
AT angelisstavros larsensyndromeandassociatedspinaldeformities
AT piagkoumaria larsensyndromeandassociatedspinaldeformities
AT apostolopoulosalexandros larsensyndromeandassociatedspinaldeformities
AT troupistheodore larsensyndromeandassociatedspinaldeformities
AT filippoudimitrios larsensyndromeandassociatedspinaldeformities