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Pallister–Hall Syndrome
Polydactyly is a relatively common abnormality in infants. However, it can be a marker of a wide variety of neurological and systemic abnormality. Hence, it is important for pediatrician and physician to have insight into the various association of this apparently innocuous anomaly. In this write-up...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696670/ https://www.ncbi.nlm.nih.gov/pubmed/29204208 http://dx.doi.org/10.4103/jpn.JPN_101_17 |
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author | Chandra, Sadanandvalli Retnaswami Daryappa, Mane Maheshkumar Mukheem Mudabbir, M. A. Pooja, M. Arivazhagan, A. |
author_facet | Chandra, Sadanandvalli Retnaswami Daryappa, Mane Maheshkumar Mukheem Mudabbir, M. A. Pooja, M. Arivazhagan, A. |
author_sort | Chandra, Sadanandvalli Retnaswami |
collection | PubMed |
description | Polydactyly is a relatively common abnormality in infants. However, it can be a marker of a wide variety of neurological and systemic abnormality. Hence, it is important for pediatrician and physician to have insight into the various association of this apparently innocuous anomaly. In this write-up, we report an extremely rare syndrome associated with polydactyly that is Pallister–Hall syndrome. A 10-month-old male child born by lower segment cesarean section presented with global delay associated with microcephaly, frontal bossing, hypertelorism, flat nose, short philtrum, incomplete cleft in the upper lip and hard palate, polydactyly, and syndactyly. The child presented with repeated vomiting and crying episodes. The patient was investigated which revealed a hypothalamic hamartomas. Pallister–Hall syndrome is a very rare autosomal dominant genetic disorder due to mutation in GLI3 gene in the short arm of chromosome 7 with variable penetrance and expressivity. |
format | Online Article Text |
id | pubmed-5696670 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-56966702017-12-04 Pallister–Hall Syndrome Chandra, Sadanandvalli Retnaswami Daryappa, Mane Maheshkumar Mukheem Mudabbir, M. A. Pooja, M. Arivazhagan, A. J Pediatr Neurosci Case Report Polydactyly is a relatively common abnormality in infants. However, it can be a marker of a wide variety of neurological and systemic abnormality. Hence, it is important for pediatrician and physician to have insight into the various association of this apparently innocuous anomaly. In this write-up, we report an extremely rare syndrome associated with polydactyly that is Pallister–Hall syndrome. A 10-month-old male child born by lower segment cesarean section presented with global delay associated with microcephaly, frontal bossing, hypertelorism, flat nose, short philtrum, incomplete cleft in the upper lip and hard palate, polydactyly, and syndactyly. The child presented with repeated vomiting and crying episodes. The patient was investigated which revealed a hypothalamic hamartomas. Pallister–Hall syndrome is a very rare autosomal dominant genetic disorder due to mutation in GLI3 gene in the short arm of chromosome 7 with variable penetrance and expressivity. Medknow Publications & Media Pvt Ltd 2017 /pmc/articles/PMC5696670/ /pubmed/29204208 http://dx.doi.org/10.4103/jpn.JPN_101_17 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 Chandra, Sadanandvalli Retnaswami Daryappa, Mane Maheshkumar Mukheem Mudabbir, M. A. Pooja, M. Arivazhagan, A. Pallister–Hall Syndrome |
title | Pallister–Hall Syndrome |
title_full | Pallister–Hall Syndrome |
title_fullStr | Pallister–Hall Syndrome |
title_full_unstemmed | Pallister–Hall Syndrome |
title_short | Pallister–Hall Syndrome |
title_sort | pallister–hall syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696670/ https://www.ncbi.nlm.nih.gov/pubmed/29204208 http://dx.doi.org/10.4103/jpn.JPN_101_17 |
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