Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas

Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal...

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Detalles Bibliográficos
Autores principales: Demirdöven, Mehmet, Yazgan, Hamza, Korkmaz, Mevlit, Gebeşçe, Arzu, Tonbul, Alparslan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4137740/
https://www.ncbi.nlm.nih.gov/pubmed/25165593
http://dx.doi.org/10.1155/2014/623926
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author Demirdöven, Mehmet
Yazgan, Hamza
Korkmaz, Mevlit
Gebeşçe, Arzu
Tonbul, Alparslan
author_facet Demirdöven, Mehmet
Yazgan, Hamza
Korkmaz, Mevlit
Gebeşçe, Arzu
Tonbul, Alparslan
author_sort Demirdöven, Mehmet
collection PubMed
description Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal anomalies. This report presents a typical case of Smith-Lemli-Opitz syndrome with annular pancreas which is an unreported gastrointestinal abnormality.
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spelling pubmed-41377402014-08-27 Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas Demirdöven, Mehmet Yazgan, Hamza Korkmaz, Mevlit Gebeşçe, Arzu Tonbul, Alparslan Case Rep Pediatr Case Report Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal anomalies. This report presents a typical case of Smith-Lemli-Opitz syndrome with annular pancreas which is an unreported gastrointestinal abnormality. Hindawi Publishing Corporation 2014 2014-08-05 /pmc/articles/PMC4137740/ /pubmed/25165593 http://dx.doi.org/10.1155/2014/623926 Text en Copyright © 2014 Mehmet Demirdöven et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Demirdöven, Mehmet
Yazgan, Hamza
Korkmaz, Mevlit
Gebeşçe, Arzu
Tonbul, Alparslan
Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas
title Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas
title_full Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas
title_fullStr Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas
title_full_unstemmed Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas
title_short Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas
title_sort smith-lemli-opitz syndrome: a case with annular pancreas
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4137740/
https://www.ncbi.nlm.nih.gov/pubmed/25165593
http://dx.doi.org/10.1155/2014/623926
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