Case Report
JBCGenetics. 2022; 5(2):

Phelan-McDermid Syndrome: a case report and review of literature

Authors: Osama Yousef Muthaffar, Anas Saeed Alyazidi.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1646057756

Abstract

Background: Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a heterozygous deletion in the 22 chromosome at 22q13 region or by a heterozygous pathogenic variant in SHANK3 gene. PMS is one of the important etiologies in children presenting mainly with intellectual delay, epilepsy or autism spectrum disorder. Case presentation: We describe a case of a 9-year-old male with a non-specific neurodevelopmental disorder characterized by early signs of autism noticed from the age of 2 years. During his infancy, the patient exhibited slow gain of his milestones. He was later diagnosed with PMS, speech and intellectual disability. Conclusion: This study presented a novel case of a patient diagnosed with PMS in Saudi Arabia. Therefore, highlighting the clinical findings is essential to establish a common understanding of the disease. Patient education and awareness is a major part of management plan since many families might require further explanation as they might require to deliver a special education to their children affected by the syndrome. PMS is gaining great interest in research and patient awareness.

Keywords:   SHANK3, autism, pediatrics, seizures, chromosomal abnormality, congenital anomaly


© Copyright: Author(s)

Phelan-McDermid Syndrome: a case report and review of literature


Authors
Osama Yousef Muthaffar
Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
PubMed articlesGoogle scholar articles

Anas Saeed Alyazidi
Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
PubMed articlesGoogle scholar articles


Correspondence to:
. Anas Saeed Alyazidi, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia; aalyazidi0015@stu.kau.edu.sa

Publication history
Received 28 Feb 2022
Revised 13 Jun 2022
Accepted 18 Jul 2022
Published online 16 Aug 2022

How to cite this article

Pubmed Style

Muthaffar OY, Alyazidi AS. Phelan-McDermid Syndrome: a case report and review of literature. JBCGenetics. Online First: 16 Aug, 2022. doi:10.24911/JBCGenetics/183-1646057756


Web Style

Muthaffar OY, Alyazidi AS. Phelan-McDermid Syndrome: a case report and review of literature. https://www.jbcgenetics.com//?mno=95040 [Access: October 02, 2022]. doi:10.24911/JBCGenetics/183-1646057756


AMA (American Medical Association) Style

Muthaffar OY, Alyazidi AS. Phelan-McDermid Syndrome: a case report and review of literature. JBCGenetics. Online First: 16 Aug, 2022. doi:10.24911/JBCGenetics/183-1646057756


Vancouver/ICMJE Style

Muthaffar OY, Alyazidi AS. Phelan-McDermid Syndrome: a case report and review of literature. JBCGenetics, [cited October 02, 2022]; Online First: 16 Aug, 2022. doi:10.24911/JBCGenetics/183-1646057756


Harvard Style

Muthaffar, O. Y. & Alyazidi, . A. S. (2022) Phelan-McDermid Syndrome: a case report and review of literature. JBCGenetics, Online First: 16 Aug, 2022. doi:10.24911/JBCGenetics/183-1646057756


Turabian Style

Muthaffar, Osama Yousef, and Anas Saeed Alyazidi. 2022. Phelan-McDermid Syndrome: a case report and review of literature. Journal of Biochemical and Clinical Genetics, Online First: 16 Aug, 2022. doi:10.24911/JBCGenetics/183-1646057756


Chicago Style

Muthaffar, Osama Yousef, and Anas Saeed Alyazidi. "Phelan-McDermid Syndrome: a case report and review of literature." Journal of Biochemical and Clinical Genetics Online First: 16 Aug, 2022. doi:10.24911/JBCGenetics/183-1646057756


MLA (The Modern Language Association) Style

Muthaffar, Osama Yousef, and Anas Saeed Alyazidi. "Phelan-McDermid Syndrome: a case report and review of literature." Journal of Biochemical and Clinical Genetics Online First: 16 Aug, 2022. Web. 02 Oct 2022 doi:10.24911/JBCGenetics/183-1646057756


APA (American Psychological Association) Style

Muthaffar, O. Y. & Alyazidi, . A. S. (2022) Phelan-McDermid Syndrome: a case report and review of literature. Journal of Biochemical and Clinical Genetics, Online First: 16 Aug, 2022. doi:10.24911/JBCGenetics/183-1646057756


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