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Article

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

Italian journal of pediatrics - 23 Jun 2022

Kamal Naglaa M, Alzeky AlaaEddin M, Omair Maher R, Attar Ruwayd A, Alotaibi Abdullah M, Safar Abdullah, Alosaimi Nawal S, Abosabie Sara A S

Abstract excerpt

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 born to first-degree cousins from fourth-generation consanguineous families, who had with antenatal history of reduced...

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Identifiers

PMID: 35739559
DOI: 10.1186/s13052-022-01301-x
PMCID: PMC9229910

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report.PMID 35739559Read ↗

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