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Russell–Silver syndrome associated with low conus medullaris
Russell–Silver syndrome is a rare heterogeneous disorder mainly characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, clinodactyly, variation in urogenital development, and skeletal asymmetry. It is rare to come across tethered cord-associated Russell–Silver syn...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314858/ https://www.ncbi.nlm.nih.gov/pubmed/28217167 http://dx.doi.org/10.4103/1817-1745.199482 |
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author | Gabor, Larisa Canaz, Huseyin Canaz, Gokhan Kara, Nursu Alatas, Ibrahim Bozkus, Hakan |
author_facet | Gabor, Larisa Canaz, Huseyin Canaz, Gokhan Kara, Nursu Alatas, Ibrahim Bozkus, Hakan |
author_sort | Gabor, Larisa |
collection | PubMed |
description | Russell–Silver syndrome is a rare heterogeneous disorder mainly characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, clinodactyly, variation in urogenital development, and skeletal asymmetry. It is rare to come across tethered cord-associated Russell–Silver syndrome. We report a rare case of Russell–Silver syndrome associated with low conus medullaris in a 2-year-old patient with demonstrative phenotype. Magnetic resonance imaging indicated a low conus medullaris at the inferior border of the L3 vertebral body. Urodynamic study revealed detrusor-sphincter dyssynergia and detrusor overactivity. A decision to follow-up the patient was made because of the suspicion of tethered cord syndrome. Even though tethered cord syndrome is not a common finding in Russell–Silver syndrome, it is important to consider tethered cord syndrome to avoid scoliosis and other long-term complications. |
format | Online Article Text |
id | pubmed-5314858 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-53148582017-02-17 Russell–Silver syndrome associated with low conus medullaris Gabor, Larisa Canaz, Huseyin Canaz, Gokhan Kara, Nursu Alatas, Ibrahim Bozkus, Hakan J Pediatr Neurosci Case Report Russell–Silver syndrome is a rare heterogeneous disorder mainly characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, clinodactyly, variation in urogenital development, and skeletal asymmetry. It is rare to come across tethered cord-associated Russell–Silver syndrome. We report a rare case of Russell–Silver syndrome associated with low conus medullaris in a 2-year-old patient with demonstrative phenotype. Magnetic resonance imaging indicated a low conus medullaris at the inferior border of the L3 vertebral body. Urodynamic study revealed detrusor-sphincter dyssynergia and detrusor overactivity. A decision to follow-up the patient was made because of the suspicion of tethered cord syndrome. Even though tethered cord syndrome is not a common finding in Russell–Silver syndrome, it is important to consider tethered cord syndrome to avoid scoliosis and other long-term complications. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC5314858/ /pubmed/28217167 http://dx.doi.org/10.4103/1817-1745.199482 Text en Copyright: © 2017 Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Gabor, Larisa Canaz, Huseyin Canaz, Gokhan Kara, Nursu Alatas, Ibrahim Bozkus, Hakan Russell–Silver syndrome associated with low conus medullaris |
title | Russell–Silver syndrome associated with low conus medullaris |
title_full | Russell–Silver syndrome associated with low conus medullaris |
title_fullStr | Russell–Silver syndrome associated with low conus medullaris |
title_full_unstemmed | Russell–Silver syndrome associated with low conus medullaris |
title_short | Russell–Silver syndrome associated with low conus medullaris |
title_sort | russell–silver syndrome associated with low conus medullaris |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314858/ https://www.ncbi.nlm.nih.gov/pubmed/28217167 http://dx.doi.org/10.4103/1817-1745.199482 |
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