A case report of Escobar syndrome
Keywords:
Escobar, pterygium, multiple, receptor, acetylcholineAbstract
Non-lethal multiple pterygium syndrome or Escobar type is characterized by presenting multiple pterygium and congenital contractures; due to these features, it is considered as a subtype of multiple congenital arthrogryposis. It has an autosomal recessive inheritance pattern; how- ever, there are a few case reports with an autosomal dominant inheritance, and in addition, it shows variable expression among affected individuals. The syndrome has been associated with mutations in the CHRNG gene located in the locus 2q37.1. This article presents the case of a Mexican patient with a clinical diagnosis of Escobar syndrome, with the next symptoms: multiple pterygia, arthrogryposis, facial dysmorphism, short stature and vertebral fusions; all of them are clinical features of this disease. The patient meets the criteria for establishing the clinical diagnosis of Escobar syndrome; however, up to date, it has not been possible to make the molecular study to confirm the diagnosis. The aim of this work is to contribute to the knowledge of a low-frequency disease which requires a multidisciplinary approach for its diagnosis and treatment in order to improve the quality of life of these patients.
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Copyright (c) 2016 Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra
This work is licensed under a Creative Commons Attribution 4.0 International License.
© Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra under a Creative Commons Attribution 4.0 International (CC BY 4.0) license which allows to reproduce and modify the content if appropiate recognition to the original source is given.
