Adams-Oliver Syndrome: Vestigial Tail and Genetics Update

Adams-Oliver syndrome is a well-recognized autosomal dominant disorder for which mutations in six genes are etiologic, but account for only one-third of the cases. We report a patient with two genetic disorders; Adams-Oliver and Xp22.33 deletion syndromes, as well as a vestigial pseudotail. The pres...

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Autores principales: Zhu, Victor Z., Hansen-Kiss, Emily, Hecht, Jacqueline T., Payne, Phileemon E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical Publishers, Inc. 2022
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9340189/
https://www.ncbi.nlm.nih.gov/pubmed/35919556
http://dx.doi.org/10.1055/s-0042-1751107
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author Zhu, Victor Z.
Hansen-Kiss, Emily
Hecht, Jacqueline T.
Payne, Phileemon E.
author_facet Zhu, Victor Z.
Hansen-Kiss, Emily
Hecht, Jacqueline T.
Payne, Phileemon E.
author_sort Zhu, Victor Z.
collection PubMed
description Adams-Oliver syndrome is a well-recognized autosomal dominant disorder for which mutations in six genes are etiologic, but account for only one-third of the cases. We report a patient with two genetic disorders; Adams-Oliver and Xp22.33 deletion syndromes, as well as a vestigial pseudotail. The presence of a pseudotail has not previously been reported in either of these genetic conditions. Absence of a molecular etiology underlying Adams-Oliver syndrome confirms that there are additional genetic causes to be identified.
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spelling pubmed-93401892022-08-01 Adams-Oliver Syndrome: Vestigial Tail and Genetics Update Zhu, Victor Z. Hansen-Kiss, Emily Hecht, Jacqueline T. Payne, Phileemon E. Arch Plast Surg Adams-Oliver syndrome is a well-recognized autosomal dominant disorder for which mutations in six genes are etiologic, but account for only one-third of the cases. We report a patient with two genetic disorders; Adams-Oliver and Xp22.33 deletion syndromes, as well as a vestigial pseudotail. The presence of a pseudotail has not previously been reported in either of these genetic conditions. Absence of a molecular etiology underlying Adams-Oliver syndrome confirms that there are additional genetic causes to be identified. Thieme Medical Publishers, Inc. 2022-07-30 /pmc/articles/PMC9340189/ /pubmed/35919556 http://dx.doi.org/10.1055/s-0042-1751107 Text en The Korean Society of Plastic and Reconstructive Surgeons. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ) https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.
spellingShingle Zhu, Victor Z.
Hansen-Kiss, Emily
Hecht, Jacqueline T.
Payne, Phileemon E.
Adams-Oliver Syndrome: Vestigial Tail and Genetics Update
title Adams-Oliver Syndrome: Vestigial Tail and Genetics Update
title_full Adams-Oliver Syndrome: Vestigial Tail and Genetics Update
title_fullStr Adams-Oliver Syndrome: Vestigial Tail and Genetics Update
title_full_unstemmed Adams-Oliver Syndrome: Vestigial Tail and Genetics Update
title_short Adams-Oliver Syndrome: Vestigial Tail and Genetics Update
title_sort adams-oliver syndrome: vestigial tail and genetics update
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9340189/
https://www.ncbi.nlm.nih.gov/pubmed/35919556
http://dx.doi.org/10.1055/s-0042-1751107
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