Berardinelli-Seip syndrome type 1 in an Egyptian child

Berardinelli-Seip syndrome type 1 or Berardinelli-Seip congenital lipodystrophy 1 (BSCL1) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. Its prevalence in Egypt is not known. Here, we report case of a 12-year-old Egyptian b...

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Detalles Bibliográficos
Autores principales: Metwalley, Kotb Abbass, Farghaly, Hekma Saad
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/PMC4065484/
https://www.ncbi.nlm.nih.gov/pubmed/24959019
http://dx.doi.org/10.4103/0971-6866.132762
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author Metwalley, Kotb Abbass
Farghaly, Hekma Saad
author_facet Metwalley, Kotb Abbass
Farghaly, Hekma Saad
author_sort Metwalley, Kotb Abbass
collection PubMed
description Berardinelli-Seip syndrome type 1 or Berardinelli-Seip congenital lipodystrophy 1 (BSCL1) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. Its prevalence in Egypt is not known. Here, we report case of a 12-year-old Egyptian boy with the clinical, metabolic and molecular genetics manifestations of BSCL1 including overt diabetes mellitus.
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spelling pubmed-40654842014-06-23 Berardinelli-Seip syndrome type 1 in an Egyptian child Metwalley, Kotb Abbass Farghaly, Hekma Saad Indian J Hum Genet Case Report Berardinelli-Seip syndrome type 1 or Berardinelli-Seip congenital lipodystrophy 1 (BSCL1) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. Its prevalence in Egypt is not known. Here, we report case of a 12-year-old Egyptian boy with the clinical, metabolic and molecular genetics manifestations of BSCL1 including overt diabetes mellitus. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4065484/ /pubmed/24959019 http://dx.doi.org/10.4103/0971-6866.132762 Text en Copyright: © Indian Journal of Human Genetics 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
Metwalley, Kotb Abbass
Farghaly, Hekma Saad
Berardinelli-Seip syndrome type 1 in an Egyptian child
title Berardinelli-Seip syndrome type 1 in an Egyptian child
title_full Berardinelli-Seip syndrome type 1 in an Egyptian child
title_fullStr Berardinelli-Seip syndrome type 1 in an Egyptian child
title_full_unstemmed Berardinelli-Seip syndrome type 1 in an Egyptian child
title_short Berardinelli-Seip syndrome type 1 in an Egyptian child
title_sort berardinelli-seip syndrome type 1 in an egyptian child
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065484/
https://www.ncbi.nlm.nih.gov/pubmed/24959019
http://dx.doi.org/10.4103/0971-6866.132762
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