Escobar Syndrome with Monodactyly: A Rare Case Report

Escobar syndrome (nonlethal type of multiple pterygium syndrome) is a very rare genetic disorder. The central manifestations of Escobar syndrome are the presence of multiple pterygia, fixed joint contractures, and characteristic facies. Here, we report a case of Escobar syndrome with additional feat...

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Detalles Bibliográficos
Autores principales: Karad, Somnath, Ahmad, Imran, Tripathi, Sudhanshu, Ali, Sheikh Sarfraz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757792/
https://www.ncbi.nlm.nih.gov/pubmed/36530816
http://dx.doi.org/10.4103/jiaps.jiaps_241_21
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author Karad, Somnath
Ahmad, Imran
Tripathi, Sudhanshu
Ali, Sheikh Sarfraz
author_facet Karad, Somnath
Ahmad, Imran
Tripathi, Sudhanshu
Ali, Sheikh Sarfraz
author_sort Karad, Somnath
collection PubMed
description Escobar syndrome (nonlethal type of multiple pterygium syndrome) is a very rare genetic disorder. The central manifestations of Escobar syndrome are the presence of multiple pterygia, fixed joint contractures, and characteristic facies. Here, we report a case of Escobar syndrome with additional features such as monodactyly and hypoplastic pectoralis muscle.
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spelling pubmed-97577922022-12-17 Escobar Syndrome with Monodactyly: A Rare Case Report Karad, Somnath Ahmad, Imran Tripathi, Sudhanshu Ali, Sheikh Sarfraz J Indian Assoc Pediatr Surg Case Report Escobar syndrome (nonlethal type of multiple pterygium syndrome) is a very rare genetic disorder. The central manifestations of Escobar syndrome are the presence of multiple pterygia, fixed joint contractures, and characteristic facies. Here, we report a case of Escobar syndrome with additional features such as monodactyly and hypoplastic pectoralis muscle. Wolters Kluwer - Medknow 2022 2022-09-09 /pmc/articles/PMC9757792/ /pubmed/36530816 http://dx.doi.org/10.4103/jiaps.jiaps_241_21 Text en Copyright: © 2022 Journal of Indian Association of Pediatric Surgeons https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Karad, Somnath
Ahmad, Imran
Tripathi, Sudhanshu
Ali, Sheikh Sarfraz
Escobar Syndrome with Monodactyly: A Rare Case Report
title Escobar Syndrome with Monodactyly: A Rare Case Report
title_full Escobar Syndrome with Monodactyly: A Rare Case Report
title_fullStr Escobar Syndrome with Monodactyly: A Rare Case Report
title_full_unstemmed Escobar Syndrome with Monodactyly: A Rare Case Report
title_short Escobar Syndrome with Monodactyly: A Rare Case Report
title_sort escobar syndrome with monodactyly: a rare case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757792/
https://www.ncbi.nlm.nih.gov/pubmed/36530816
http://dx.doi.org/10.4103/jiaps.jiaps_241_21
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AT ahmadimran escobarsyndromewithmonodactylyararecasereport
AT tripathisudhanshu escobarsyndromewithmonodactylyararecasereport
AT alisheikhsarfraz escobarsyndromewithmonodactylyararecasereport

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