Case Report

Volume: 6 | Issue: 1 | Published: Mar 21, 2023 | Pages: 85 - 88 | DOI: 10.24911/JBCGenetics/183-1675359352

Progressive pseudorheumatoid dysplasia in an Omani family: a case report

Authors: Zuha Alkhaldi , Moosa Allawati , Nadia Alhashmi

Article Info

Authors

Zuha Alkhaldi

Medical Intern, Sultan Qaboos University, Muscat, Sultanate of Oman

Moosa Allawati

Medical Intern, Sultan Qaboos University, Muscat, Sultanate of Oman

Nadia Alhashmi

Senior Consultant, Clinical & Biochemical Geneticist, Child Health Department, Royal Hospital, Muscat, Sultanate of Oman.

Publication History

Received: February 02, 2023

Revised: March 04, 2023

Accepted: March 05, 2023

Published: March 21, 2023

Abstract

Background: Progressive pseudorheumatoid dysplasia (PPRD) is an inherited autosomal recessive musculoskeletal condition caused by mutations in the Cellular Communication Network Factor 6 (CCN6) gene. This causes a variety of clinical features such as short stature, genu varum, etc. Case Presentation: This study reported cases of three patients from the same family who exhibited the clinical features of PPRD, and the condition was diagnosed through confirmatory genetic testing. The whole exome sequencing test results for the 15-year-old and 3-year-old males revealed a class-5 pathogenic homozygous mutation in the CCN6 gene, resulting in both individuals being diagnosed with autosomal recessive PPRD. The results for the third patient had not come out yet. Conclusion: For patients with PPRD, it is necessary to take the full family history and genetic testing that might help in the diagnosis and treatment of the condition.

Keywords: Case report, progressive pseudorheumatoid dysplasia, CCN6, PPRD, Oman

Open access Creative Commons License

Pubmed Style

Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi. Progressive pseudorheumatoid dysplasia in an Omani family: a case report. JBC Genetics. 2023; 21 (March 2023): 85-88. doi:10.24911/JBCGenetics/183-1675359352

Web Style

Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi. Progressive pseudorheumatoid dysplasia in an Omani family: a case report. https://www.jbcgenetics.com/articles/2087 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1675359352

AMA (American Medical Association) Style

Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi. Progressive pseudorheumatoid dysplasia in an Omani family: a case report. JBC Genetics. 2023; 21 (March 2023): 85-88. doi:10.24911/JBCGenetics/183-1675359352

Vancouver/ICMJE Style

Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi. Progressive pseudorheumatoid dysplasia in an Omani family: a case report. JBC Genetics. (2023), [cited April 27, 2025]; 21 (March 2023): 85-88. doi:10.24911/JBCGenetics/183-1675359352

Harvard Style

Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi (2023) Progressive pseudorheumatoid dysplasia in an Omani family: a case report. JBC Genetics, 21 (March 2023): 85-88. doi:10.24911/JBCGenetics/183-1675359352

Chicago Style

Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi. "Progressive pseudorheumatoid dysplasia in an Omani family: a case report." 21 (2023), 85-88. doi:10.24911/JBCGenetics/183-1675359352

MLA (The Modern Language Association) Style

Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi. "Progressive pseudorheumatoid dysplasia in an Omani family: a case report." 21.March 2023 (2023), 85-88. Print. doi:10.24911/JBCGenetics/183-1675359352

APA (American Psychological Association) Style

Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi (2023) Progressive pseudorheumatoid dysplasia in an Omani family: a case report. , 21 (March 2023), 85-88. doi:10.24911/JBCGenetics/183-1675359352