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
Descripción
Sumario: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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