EJMCR |

Case Report

Volume: 8 | Issue: 9 | Published: Nov 05, 2024 | Pages: 192 - 195 | DOI: 10.24911/ejmcr.173-1685450588

Phelan-Mcdermid syndrome: Three Case Reports and a Literature Review

Authors: Berrada Sarah , Tazzite Amal , Fatima Maarouf , Gazzaz Bouchaib , Dehbi Hind

Article Info

Authors

Berrada Sarah

Medical Genetics Laboratory, Ibn Rochd University Hospital, Casablanca, Morocco.

Tazzite Amal

Laboratory of Cellular and Molecular Pathology, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, Morocco.

Fatima Maarouf

Institut Superieur des Professions Infirmieres et Techniques de Sante de Casablanca, Casablanca, Morocco.

Gazzaz Bouchaib

Genetics Analysis Institute, Royal Gendarmerie, Rabat, Morocco.

Dehbi Hind

Medical Genetics Laboratory, Ibn Rochd University Hospital, Casablanca, Morocco.

Publication History

Received: November 13, 2023

Accepted: April 25, 2024

Published: November 05, 2024

Abstract

Background: Phelan-McDermid syndrome (PMS) [OMIM: 606232] is a neurodevelopmental disorder commonly due to a deletion of chromosome 22q13.3. It is characterized by neonatal hypotonia, severely delayed absenting speech, developmental delay, and minor dysmorphic facial features.
Case Presentation: The Comparative genomic hybridization array was performed on three patients referred to our genetics department for an autism spectrum disorder and facial dysmorphia. The results showed a deletion of chromosome 22.
Conclusion: In summary, the genotype-phenotype of PMS is still not clear. Moreover, the penetrance of this deletion seems to be incomplete for some genes, leading to variable phenotypes in patients with the same deletion.

Keywords: Phelan-McDermid syndrome, 22q13 deletion syndrome, neurodevelopmental disorder.

Pubmed Style

Berrada Sarah, Tazzite Amal, Fatima Maarouf, Gazzaz Bouchaib, Dehbi Hind. Phelan-Mcdermid syndrome: Three Case Reports and a Literature Review. EJMCR. 2024; 05 (November 2024): 192-195. doi:10.24911/ejmcr.173-1685450588

Web Style

Berrada Sarah, Tazzite Amal, Fatima Maarouf, Gazzaz Bouchaib, Dehbi Hind. Phelan-Mcdermid syndrome: Three Case Reports and a Literature Review. https://ejmcr.com/articles/1342 [Access: November 21, 2024]. doi:10.24911/ejmcr.173-1685450588

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Berrada Sarah, Tazzite Amal, Fatima Maarouf, Gazzaz Bouchaib, Dehbi Hind. Phelan-Mcdermid syndrome: Three Case Reports and a Literature Review. EJMCR. (2024), [cited November 21, 2024]; 05 (November 2024): 192-195. doi:10.24911/ejmcr.173-1685450588

Harvard Style

Berrada Sarah, Tazzite Amal, Fatima Maarouf, Gazzaz Bouchaib, Dehbi Hind (2024) Phelan-Mcdermid syndrome: Three Case Reports and a Literature Review. EJMCR, 05 (November 2024): 192-195. doi:10.24911/ejmcr.173-1685450588

Chicago Style

Berrada Sarah, Tazzite Amal, Fatima Maarouf, Gazzaz Bouchaib, Dehbi Hind. "Phelan-Mcdermid syndrome: Three Case Reports and a Literature Review." 05 (2024), 192-195. doi:10.24911/ejmcr.173-1685450588

MLA (The Modern Language Association) Style

Berrada Sarah, Tazzite Amal, Fatima Maarouf, Gazzaz Bouchaib, Dehbi Hind. "Phelan-Mcdermid syndrome: Three Case Reports and a Literature Review." 05.November 2024 (2024), 192-195. Print. doi:10.24911/ejmcr.173-1685450588

APA (American Psychological Association) Style

Berrada Sarah, Tazzite Amal, Fatima Maarouf, Gazzaz Bouchaib, Dehbi Hind (2024) Phelan-Mcdermid syndrome: Three Case Reports and a Literature Review. , 05 (November 2024), 192-195. doi:10.24911/ejmcr.173-1685450588