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Pena-Shokeir Syndrome's First Case Report from Syria

Overview
Journal Clin Case Rep
Date 2022 Nov 30
PMID 36447659
Authors
Mohammad Badr Almoshantaf
Hidar Alibrahim
Haidara Bohsas
Shorouk Alabdo
Abdulqadir J Nashwan
Sarya Swed
Affiliations
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Abstract

Pena-Shokeir syndrome is considered to be a fatal congenital condition that is rarely diagnosed in neonates. We present the first-ever reported case of Pena-Shokeir syndrome from Syria. Clinical assessment and early prenatal diagnosis are both needed to give the mother and baby more realistic options.

Citing Articles

Pena-Shokeir syndrome's first case report from Syria.

Almoshantaf M, Alibrahim H, Bohsas H, Alabdo S, Nashwan A, Swed S Clin Case Rep. 2022; 10(11):e6662.

PMID: 36447659 PMC: 9701847. DOI: 10.1002/ccr3.6662.

References
1.
Hoellen F, Schroer A, Kelling K, Krapp M, Axt-Fliedner R, Gembruch U . Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review. Fetal Diagn Ther. 2011; 30(4):289-98. DOI: 10.1159/000331401. View
2.
Hall J . Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Res A Clin Mol Teratol. 2009; 85(8):677-94. DOI: 10.1002/bdra.20611. View
3.
Chen C . Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review. Taiwan J Obstet Gynecol. 2012; 51(1):12-7. DOI: 10.1016/j.tjog.2012.01.004. View
4.
Kho N, Czarnecki L, Kerrigan J, Coons S . Pena-Shokier phenotype: case presentation and review. J Child Neurol. 2002; 17(5):397-9. DOI: 10.1177/088307380201700519. View
5.
Adam S, Coetzee M, Honey E . Pena-Shokeir syndrome: current management strategies and palliative care. Appl Clin Genet. 2018; 11:111-120. PMC: 6207248. DOI: 10.2147/TACG.S154643. View