Genetic advances in skeletal disorders: an overview

Safdar Abbas; Hammal Khan; Qamre Alam; Arif Mahmood; Muhammad Umair

doi:10.24911/JBCGenetics/183-1672021989

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Review Article
Online Published: 24 Feb 2023

JBCGenetics. 2023; 6(1): 57-69

doi: 10.24911/JBCGenetics/183-1672021989

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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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: November 14, 2024]. 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 November 14, 2024]; 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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