An Unusual Case of Perinatal Tuberous Sclerosis

We report a case of a neonate who presented to us with multiple rhabdomyomas of heart, cortical tubers in the brain and skeletal anomalies such as Pierre Robin sequence, bilateral clubfoot and lower small bowel obstruction. Though a diagnosis of neonatal tuberous sclerosis was made, the association...

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Autores principales: Hegde, Deeparaj Ganapati, Mondkar, Jayashree, Panchal, Harshad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4089125/
https://www.ncbi.nlm.nih.gov/pubmed/25024981
http://dx.doi.org/10.4103/2249-4847.134710
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author Hegde, Deeparaj Ganapati
Mondkar, Jayashree
Panchal, Harshad
author_facet Hegde, Deeparaj Ganapati
Mondkar, Jayashree
Panchal, Harshad
author_sort Hegde, Deeparaj Ganapati
collection PubMed
description We report a case of a neonate who presented to us with multiple rhabdomyomas of heart, cortical tubers in the brain and skeletal anomalies such as Pierre Robin sequence, bilateral clubfoot and lower small bowel obstruction. Though a diagnosis of neonatal tuberous sclerosis was made, the association of skeletal anomalies and intestinal obstruction was a rare and unusual finding.
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spelling pubmed-40891252014-07-14 An Unusual Case of Perinatal Tuberous Sclerosis Hegde, Deeparaj Ganapati Mondkar, Jayashree Panchal, Harshad J Clin Neonatol Case Report We report a case of a neonate who presented to us with multiple rhabdomyomas of heart, cortical tubers in the brain and skeletal anomalies such as Pierre Robin sequence, bilateral clubfoot and lower small bowel obstruction. Though a diagnosis of neonatal tuberous sclerosis was made, the association of skeletal anomalies and intestinal obstruction was a rare and unusual finding. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4089125/ /pubmed/25024981 http://dx.doi.org/10.4103/2249-4847.134710 Text en Copyright: © Journal of Clinical Neonatology 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-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Hegde, Deeparaj Ganapati
Mondkar, Jayashree
Panchal, Harshad
An Unusual Case of Perinatal Tuberous Sclerosis
title An Unusual Case of Perinatal Tuberous Sclerosis
title_full An Unusual Case of Perinatal Tuberous Sclerosis
title_fullStr An Unusual Case of Perinatal Tuberous Sclerosis
title_full_unstemmed An Unusual Case of Perinatal Tuberous Sclerosis
title_short An Unusual Case of Perinatal Tuberous Sclerosis
title_sort unusual case of perinatal tuberous sclerosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4089125/
https://www.ncbi.nlm.nih.gov/pubmed/25024981
http://dx.doi.org/10.4103/2249-4847.134710
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