E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report

Online Publishing Date:
16 / 08 / 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.


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Osama Yousef Muthaffar
Articles by Anas Saeed Alyazidi
on Google
on Google Scholar


How to Cite this Article
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: March 13, 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 March 13, 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





Most Viewed Articles
Most Accessed Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • The role of C-terminal tensin-like (Cten) gene in cancer metastasis
    Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
    JBCGenetics. 2018; 1(1): 2-9
    » Abstract » doi: 10.24911/JBCGenetics/183-1531548689

  • Clinical reassessment of post-laboratory variant call format (VCF) files
    Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
    JBCGenetics. 2018; 1(1): 31-36
    » Abstract » doi: 10.24911/JBCGenetics/183-1529928114

  • Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
    AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
    JBCGenetics. 2018; 1(1): 37-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1530040885

  • Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

  • Most Downloaded
    Top Downloaded Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
    Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
    JBCGenetics. 2019; 2(1): 28-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1542047633

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257

  • Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923

  • Most Cited Articles
    Most Cited Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389
    Cited : 4 times [Click to see citing articles]

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257
    Cited : 4 times [Click to see citing articles]

  • Genomics in Saudi Arabia Call for Data-Sharing Policy
    Ahmed Alfares,
    JBCGenetics. 2018; 1(2): 51-52
    » Abstract » doi: 10.24911/JBCGenetics/183-1546945268
    Cited : 4 times [Click to see citing articles]

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923
    Cited : 2 times [Click to see citing articles]

  • Harel-Yoon syndrome: the first case report from Saudi Arabia
    Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
    JBCGenetics. 2020; 3(1): 22-27
    » Abstract » doi: 10.24911/JBCGenetics/183-1585816398
    Cited : 2 times [Click to see citing articles]