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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...

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Autores principales: Chandra, Sadanandvalli Retnaswami, Daryappa, Mane Maheshkumar, Mukheem Mudabbir, M. A., Pooja, M., Arivazhagan, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
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.
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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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