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Case Report
Online Published: 16 Aug 2022
 


Phelan-McDermid syndrome: a case report and review of the literature

Osama Yousef Muthaffar, Anas Saeed Alyazidi.


Abstract
Background: Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a heterozygous deletion in chromosome 22 in the 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 nonspecific neurodevelopmental disorder characterized by early signs of autism noticed from the age of 2 years. During his infancy, the patient exhibited slow gains of his milestones. He was later diagnosed with PMS and 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 the management plan since many families might require further explanation as they might need to deliver special education to their children affected by the syndrome. PMS is gaining great interest in research and patient awareness.

Key words: SHANK3, autism, pediatrics, seizures, chromosomal abnormality, congenital anomaly.


 
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Pubmed Style

Muthaffar OY, Alyazidi AS. Phelan-McDermid syndrome: a case report and review of the literature. JBCGenetics. 2022; 5(2): 053-058. doi:10.24911/JBCGenetics/183-1646057756

Web Style

Muthaffar OY, Alyazidi AS. Phelan-McDermid syndrome: a case report and review of the literature. https://www.jbcgenetics.com/?mno=95040 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1646057756

AMA (American Medical Association) Style

Muthaffar OY, Alyazidi AS. Phelan-McDermid syndrome: a case report and review of the literature. JBCGenetics. 2022; 5(2): 053-058. doi:10.24911/JBCGenetics/183-1646057756


Vancouver/ICMJE Style

Muthaffar OY, Alyazidi AS. Phelan-McDermid syndrome: a case report and review of the literature. JBCGenetics. (2022), [cited November 14, 2024]; 5(2): 053-058. doi:10.24911/JBCGenetics/183-1646057756


Harvard Style

Muthaffar, O. Y. & Alyazidi, . A. S. (2022) Phelan-McDermid syndrome: a case report and review of the literature. JBCGenetics, 5 (2), 053-058. 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 the literature. Journal of Biochemical and Clinical Genetics, 5 (2), 053-058. doi:10.24911/JBCGenetics/183-1646057756


Chicago Style

Muthaffar, Osama Yousef, and Anas Saeed Alyazidi. "Phelan-McDermid syndrome: a case report and review of the literature." Journal of Biochemical and Clinical Genetics 5 (2022), 053-058. 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 the literature." Journal of Biochemical and Clinical Genetics 5.2 (2022), 053-058. Print. 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 the literature. Journal of Biochemical and Clinical Genetics, 5 (2), 053-058. doi:10.24911/JBCGenetics/183-1646057756




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