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Meckel Gruber syndrome associated with anencephaly—an unusual reported case
Meckel–Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000–400 000 live births. MGS is characterized by multisystem developmental malformations with the classical features of renal cystic dysplasia, occipital encephalocele and post-axial po...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806412/ https://www.ncbi.nlm.nih.gov/pubmed/29479449 http://dx.doi.org/10.1093/omcr/omx092 |
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author | Yaqoubi, Houda Nasser Al Fatema, Nishat |
author_facet | Yaqoubi, Houda Nasser Al Fatema, Nishat |
author_sort | Yaqoubi, Houda Nasser Al |
collection | PubMed |
description | Meckel–Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000–400 000 live births. MGS is characterized by multisystem developmental malformations with the classical features of renal cystic dysplasia, occipital encephalocele and post-axial polydactyly. Except for occipital encephalocele, the CNS abnormalities associated with MGS that are less frequently reported include hydrocephaly, anencephaly or malformation of cerebellum. Our presented case of MGS is associated with anencephaly and other facial abnormalities. This kind of ailment is infrequently reported in literature. |
format | Online Article Text |
id | pubmed-5806412 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-58064122018-02-23 Meckel Gruber syndrome associated with anencephaly—an unusual reported case Yaqoubi, Houda Nasser Al Fatema, Nishat Oxf Med Case Reports Case Report Meckel–Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000–400 000 live births. MGS is characterized by multisystem developmental malformations with the classical features of renal cystic dysplasia, occipital encephalocele and post-axial polydactyly. Except for occipital encephalocele, the CNS abnormalities associated with MGS that are less frequently reported include hydrocephaly, anencephaly or malformation of cerebellum. Our presented case of MGS is associated with anencephaly and other facial abnormalities. This kind of ailment is infrequently reported in literature. Oxford University Press 2018-02-09 /pmc/articles/PMC5806412/ /pubmed/29479449 http://dx.doi.org/10.1093/omcr/omx092 Text en © The Author 2018. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.comx |
spellingShingle | Case Report Yaqoubi, Houda Nasser Al Fatema, Nishat Meckel Gruber syndrome associated with anencephaly—an unusual reported case |
title | Meckel Gruber syndrome associated with anencephaly—an unusual reported case |
title_full | Meckel Gruber syndrome associated with anencephaly—an unusual reported case |
title_fullStr | Meckel Gruber syndrome associated with anencephaly—an unusual reported case |
title_full_unstemmed | Meckel Gruber syndrome associated with anencephaly—an unusual reported case |
title_short | Meckel Gruber syndrome associated with anencephaly—an unusual reported case |
title_sort | meckel gruber syndrome associated with anencephaly—an unusual reported case |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806412/ https://www.ncbi.nlm.nih.gov/pubmed/29479449 http://dx.doi.org/10.1093/omcr/omx092 |
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