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Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion

INTRODUCTION: The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal pathologies have rarely been reported with PRS. METHODS: We explore the molecular genetic basis of this association through a...

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Autores principales: Yekula, Anudeep, Grant, Connor, Gupta, Mihir, Santiago-Dieppa, David R., Duddleston, Pate J., Gonda, David, Levy, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7300078/
https://www.ncbi.nlm.nih.gov/pubmed/32399800
http://dx.doi.org/10.1007/s00381-020-04642-2
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author Yekula, Anudeep
Grant, Connor
Gupta, Mihir
Santiago-Dieppa, David R.
Duddleston, Pate J.
Gonda, David
Levy, Michael
author_facet Yekula, Anudeep
Grant, Connor
Gupta, Mihir
Santiago-Dieppa, David R.
Duddleston, Pate J.
Gonda, David
Levy, Michael
author_sort Yekula, Anudeep
collection PubMed
description INTRODUCTION: The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal pathologies have rarely been reported with PRS. METHODS: We explore the molecular genetic basis of this association through a systematic review of spinal disease in patients with PRS. We also present an illustrative case of a PRS patient with tethered cord in the setting of chromosome 10q terminal deletion. RESULTS: Our systematic literature review of spinal disease in patients with PRS revealed several patterns in the underlying genetic syndromes causing these conditions to co-occur. These principles are illustrated in the case of a 6-month-old female with PRS and a 14.34-Mb terminal deletion of chromosome 10q, who was found to have a sacral dimple during a routine outpatient checkup. Magnetic resonance imaging of the spine revealed a lumbar syrinx associated with tethered spinal cord. Surgical de-tethering was undertaken, with subsequent improvement in motor function and decrease in the size of the syrinx. The deletion of chromosome 10q in our patient had not previously been described in association with tethered cord or PRS. CONCLUSION: Spinal pathologies are understudied contributors to disease burden in patients with PRS. The range of predisposing syndromes and mutations in patients with both PRS and spinal disorders remains poorly characterized but may be more defined than previously conceived. Clinical screening is most critical during neonatal and adolescent developmental periods with continued neurological assessment. This study emphasizes the need for early genetic testing and counseling in this patient population, in parallel with research efforts to develop molecular classifications to guide clinical management. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s00381-020-04642-2) contains supplementary material, which is available to authorized users.
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spelling pubmed-73000782020-06-22 Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion Yekula, Anudeep Grant, Connor Gupta, Mihir Santiago-Dieppa, David R. Duddleston, Pate J. Gonda, David Levy, Michael Childs Nerv Syst Review Article INTRODUCTION: The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal pathologies have rarely been reported with PRS. METHODS: We explore the molecular genetic basis of this association through a systematic review of spinal disease in patients with PRS. We also present an illustrative case of a PRS patient with tethered cord in the setting of chromosome 10q terminal deletion. RESULTS: Our systematic literature review of spinal disease in patients with PRS revealed several patterns in the underlying genetic syndromes causing these conditions to co-occur. These principles are illustrated in the case of a 6-month-old female with PRS and a 14.34-Mb terminal deletion of chromosome 10q, who was found to have a sacral dimple during a routine outpatient checkup. Magnetic resonance imaging of the spine revealed a lumbar syrinx associated with tethered spinal cord. Surgical de-tethering was undertaken, with subsequent improvement in motor function and decrease in the size of the syrinx. The deletion of chromosome 10q in our patient had not previously been described in association with tethered cord or PRS. CONCLUSION: Spinal pathologies are understudied contributors to disease burden in patients with PRS. The range of predisposing syndromes and mutations in patients with both PRS and spinal disorders remains poorly characterized but may be more defined than previously conceived. Clinical screening is most critical during neonatal and adolescent developmental periods with continued neurological assessment. This study emphasizes the need for early genetic testing and counseling in this patient population, in parallel with research efforts to develop molecular classifications to guide clinical management. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s00381-020-04642-2) contains supplementary material, which is available to authorized users. Springer Berlin Heidelberg 2020-05-12 2020 /pmc/articles/PMC7300078/ /pubmed/32399800 http://dx.doi.org/10.1007/s00381-020-04642-2 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Review Article
Yekula, Anudeep
Grant, Connor
Gupta, Mihir
Santiago-Dieppa, David R.
Duddleston, Pate J.
Gonda, David
Levy, Michael
Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion
title Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion
title_full Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion
title_fullStr Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion
title_full_unstemmed Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion
title_short Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion
title_sort clinical and genetic characterization of patients with pierre robin sequence and spinal disease: review of the literature and novel terminal 10q deletion
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7300078/
https://www.ncbi.nlm.nih.gov/pubmed/32399800
http://dx.doi.org/10.1007/s00381-020-04642-2
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