First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report

First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report

Abstract Background Myogenic Arthrogryposis Multiplex Congenita type 3 (AMC-3), is a rare congenital condition characterized by severe hypotonia, club feet, and multiple joint contractures often affecting both arms and legs which start prior to birth. Case presentation We report a full-term neonate...

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Bibliographic Details
Main Authors: Naglaa M. Kamal, AlaaEddin M. Alzeky, Maher R. Omair, Ruwayd A. Attar, Abdullah M. Alotaibi, Abdullah Safar, Nawal S. Alosaimi, Sara A. S. Abosabie
Format: Article
Language:English
Published: BMC 2022-06-01
Series:Italian Journal of Pediatrics
Subjects:
SYNE1
Arthrogryposis multiplex congenita type 3
Saudi Arabia
Novel
Online Access:https://doi.org/10.1186/s13052-022-01301-x

Internet

https://doi.org/10.1186/s13052-022-01301-x

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