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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...

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Autores principales: Gabor, Larisa, Canaz, Huseyin, Canaz, Gokhan, Kara, Nursu, Alatas, Ibrahim, Bozkus, Hakan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
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.
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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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