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2023, Vol: 6, Issue: 2
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Case Report

Online Publishing Date:
21 / 03 / 2023

 


Progressive pseudorheumatoid dysplasia in an Omani family: a case report

Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi.


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.

Key words: Case report, progressive pseudorheumatoid dysplasia, CCN6, PPRD, Oman.


 
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Pubmed Style

Alkhaldi Z, Allawati M, Alhashmi N. Progressive pseudorheumatoid dysplasia in an Omani family: a case report. JBCGenetics. 2023; 6(1): 85-88. doi:10.24911/JBCGenetics/183-1675359352

Web Style

Alkhaldi Z, Allawati M, Alhashmi N. Progressive pseudorheumatoid dysplasia in an Omani family: a case report. https://www.jbcgenetics.com/?mno=142654 [Access: March 14, 2024]. doi:10.24911/JBCGenetics/183-1675359352

AMA (American Medical Association) Style

Alkhaldi Z, Allawati M, Alhashmi N. Progressive pseudorheumatoid dysplasia in an Omani family: a case report. JBCGenetics. 2023; 6(1): 85-88. doi:10.24911/JBCGenetics/183-1675359352


Vancouver/ICMJE Style

Alkhaldi Z, Allawati M, Alhashmi N. Progressive pseudorheumatoid dysplasia in an Omani family: a case report. JBCGenetics. (2023), [cited March 14, 2024]; 6(1): 85-88. doi:10.24911/JBCGenetics/183-1675359352


Harvard Style

Alkhaldi, Z., Allawati, . M. & Alhashmi, . N. (2023) Progressive pseudorheumatoid dysplasia in an Omani family: a case report. JBCGenetics, 6 (1), 85-88. doi:10.24911/JBCGenetics/183-1675359352


Turabian Style

Alkhaldi, Zuha, Moosa Allawati, and Nadia Alhashmi. 2023. Progressive pseudorheumatoid dysplasia in an Omani family: a case report. Journal of Biochemical and Clinical Genetics, 6 (1), 85-88. doi:10.24911/JBCGenetics/183-1675359352


Chicago Style

Alkhaldi, Zuha, Moosa Allawati, and Nadia Alhashmi. "Progressive pseudorheumatoid dysplasia in an Omani family: a case report." Journal of Biochemical and Clinical Genetics 6 (2023), 85-88. doi:10.24911/JBCGenetics/183-1675359352


MLA (The Modern Language Association) Style

Alkhaldi, Zuha, Moosa Allawati, and Nadia Alhashmi. "Progressive pseudorheumatoid dysplasia in an Omani family: a case report." Journal of Biochemical and Clinical Genetics 6.1 (2023), 85-88. Print. doi:10.24911/JBCGenetics/183-1675359352


APA (American Psychological Association) Style

Alkhaldi, Z., Allawati, . M. & Alhashmi, . N. (2023) Progressive pseudorheumatoid dysplasia in an Omani family: a case report. Journal of Biochemical and Clinical Genetics, 6 (1), 85-88. doi:10.24911/JBCGenetics/183-1675359352




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