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2023, Vol: 6, Issue: 1
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Review Article 


Genetic advances in skeletal disorders: an overview

Safdar Abbas, Hammal Khan, Qamre Alam, Arif Mahmood, Muhammad Umair.

Abstract
Genetic skeletal disorders (GSDs) are a large group of rare heterogeneous disorders characterized by abnormal development, remodeling, and growth of the human skeleton’s cartilage and bones. GSDs have a high spectrum of phenotypes that range from disproportionate short stature (dwarfism) in childhood to osteoarthritis in old age. According to the latest nosology classification of skeletal dysplasias, 461 disorders under 42 groups are classified according to specific radiographic, clinical, and molecular standards. In addition, correct molecular diagnosis for these rare GSDs is important for genetic and psychological counseling and treatment. GSDs are also associated with many syndromic forms that affect other parts such as hearing, vision, neurological, pulmonary, renal, or cardiac function. This review highlights the importance of GSDs and details a few selected disorders and their management strategies.

Key words: GSDs, osteogenesis imperfecta, chondrodysplasias; polydactyly, syndactyly, acromesomelic dysplasia, SHMF, diagnosis; genetics; management.


 
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How to Cite this Article
Pubmed Style

Abbas S, Khan H, Alam Q, Mahmood A, Umair M. Genetic advances in skeletal disorders: an overview. JBCGenetics. 2023; 6(1): 57-69. doi:10.24911/JBCGenetics/183-1672021989

Web Style

Abbas S, Khan H, Alam Q, Mahmood A, Umair M. Genetic advances in skeletal disorders: an overview. https://www.jbcgenetics.com//?mno=134070 [Access: August 15, 2023]. doi:10.24911/JBCGenetics/183-1672021989

AMA (American Medical Association) Style

Abbas S, Khan H, Alam Q, Mahmood A, Umair M. Genetic advances in skeletal disorders: an overview. JBCGenetics. 2023; 6(1): 57-69. doi:10.24911/JBCGenetics/183-1672021989


Vancouver/ICMJE Style

Abbas S, Khan H, Alam Q, Mahmood A, Umair M. Genetic advances in skeletal disorders: an overview. JBCGenetics. (2023), [cited August 15, 2023]; 6(1): 57-69. doi:10.24911/JBCGenetics/183-1672021989


Harvard Style

Abbas, S., Khan, . H., Alam, . Q., Mahmood, . A. & Umair, . M. (2023) Genetic advances in skeletal disorders: an overview. JBCGenetics, 6 (1), 57-69. doi:10.24911/JBCGenetics/183-1672021989


Turabian Style

Abbas, Safdar, Hammal Khan, Qamre Alam, Arif Mahmood, and Muhammad Umair. 2023. Genetic advances in skeletal disorders: an overview. Journal of Biochemical and Clinical Genetics, 6 (1), 57-69. doi:10.24911/JBCGenetics/183-1672021989


Chicago Style

Abbas, Safdar, Hammal Khan, Qamre Alam, Arif Mahmood, and Muhammad Umair. "Genetic advances in skeletal disorders: an overview." Journal of Biochemical and Clinical Genetics 6 (2023), 57-69. doi:10.24911/JBCGenetics/183-1672021989


MLA (The Modern Language Association) Style

Abbas, Safdar, Hammal Khan, Qamre Alam, Arif Mahmood, and Muhammad Umair. "Genetic advances in skeletal disorders: an overview." Journal of Biochemical and Clinical Genetics 6.1 (2023), 57-69. Print. doi:10.24911/JBCGenetics/183-1672021989


APA (American Psychological Association) Style

Abbas, S., Khan, . H., Alam, . Q., Mahmood, . A. & Umair, . M. (2023) Genetic advances in skeletal disorders: an overview. Journal of Biochemical and Clinical Genetics, 6 (1), 57-69. doi:10.24911/JBCGenetics/183-1672021989




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