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Abnormality of the musculoskeletal system

MedGen UID:
1763488
•Concept ID:
C3825027
•
Anatomical Abnormality
HPO: HP:0033127

Definition

An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the musculoskeletal system

Professional guidelines

PubMed

Sacroiliac joint dysfunction: pathophysiology, diagnosis, and treatment.
Gartenberg A, Nessim A, Cho W
Eur Spine J 2021 Oct;30(10):2936-2943. Epub 2021 Jul 16 doi: 10.1007/s00586-021-06927-9. PMID: 34272605
Craniosynostosis - Recognition, clinical characteristics, and treatment.
Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article
Diagnosis and treatment of temporomandibular disorders.
Gauer RL, Semidey MJ
Am Fam Physician 2015 Mar 15;91(6):378-86. PMID: 25822556

Recent clinical studies

Etiology

Imaging of Congenital Spine Malformations.
White C, Milla SS, Maloney JA, Neuberger I
Clin Perinatol 2022 Sep;49(3):623-640. doi: 10.1016/j.clp.2022.05.003. PMID: 36113926
The etiology of VACTERL association: Current knowledge and hypotheses.
Solomon BD
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664. PMID: 30580478
Sprengel's Deformity.
Khan Durrani MY, Sohail AH, Khan I, Hashmi P
J Ayub Med Coll Abbottabad 2018 Jan-Mar;30(1):135-137. PMID: 29504352
Oligodactyly with Thumb.
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Congenital scoliosis.
Arlet V, Odent T, Aebi M
Eur Spine J 2003 Oct;12(5):456-63. Epub 2003 Jun 14 doi: 10.1007/s00586-003-0555-6. PMID: 14618384Free PMC Article

Diagnosis

Imaging of Congenital Spine Malformations.
White C, Milla SS, Maloney JA, Neuberger I
Clin Perinatol 2022 Sep;49(3):623-640. doi: 10.1016/j.clp.2022.05.003. PMID: 36113926
Congenital Deformities of the Hands.
Chu A, Chan J, Baxi O
Pediatr Clin North Am 2020 Feb;67(1):85-99. doi: 10.1016/j.pcl.2019.09.011. PMID: 31779839
Sprengel's Deformity.
Khan Durrani MY, Sohail AH, Khan I, Hashmi P
J Ayub Med Coll Abbottabad 2018 Jan-Mar;30(1):135-137. PMID: 29504352
Associated congenital anomalies among cases with Down syndrome.
Stoll C, Dott B, Alembik Y, Roth MP
Eur J Med Genet 2015 Dec;58(12):674-80. Epub 2015 Nov 11 doi: 10.1016/j.ejmg.2015.11.003. PMID: 26578241
Congenital fibular deficiency.
Hamdy RC, Makhdom AM, Saran N, Birch J
J Am Acad Orthop Surg 2014 Apr;22(4):246-55. doi: 10.5435/JAAOS-22-04-246. PMID: 24668354

Therapy

Neuromuscular exercise in children with Down Syndrome: a systematic review.
Rodríguez-Grande EI, Vargas-Pinilla OC, Torres-Narvaez MR, Rodríguez-Malagón N
Sci Rep 2022 Sep 2;12(1):14988. doi: 10.1038/s41598-022-19086-8. PMID: 36056081Free PMC Article
What is New in Pediatric Orthopaedic Foot and Ankle.
Tileston K, Baskar D, Frick SL
J Pediatr Orthop 2022 May-Jun 01;42(5):e448-e452. doi: 10.1097/BPO.0000000000002134. PMID: 35405728
Blowout fractures - clinic, imaging and applied anatomy of the orbit.
Felding UNA
Dan Med J 2018 Mar;65(3) PMID: 29510812
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL
N Engl J Med 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361. PMID: 28792876
Fluoxetine and congenital malformations: a systematic review and meta-analysis of cohort studies.
Gao SY, Wu QJ, Zhang TN, Shen ZQ, Liu CX, Xu X, Ji C, Zhao YH
Br J Clin Pharmacol 2017 Oct;83(10):2134-2147. Epub 2017 Jun 10 doi: 10.1111/bcp.13321. PMID: 28513059Free PMC Article

Prognosis

Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management.
Markovic I, Bosnjakovic P, Milenkovic Z
Curr Pediatr Rev 2020;16(3):200-205. doi: 10.2174/1573396315666191018161535. PMID: 31656152Free PMC Article
Forefoot malformations, deformities and other congenital defects in children.
Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997
The Natural History of Meniscus Tears.
Chambers HG, Chambers RC
J Pediatr Orthop 2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S53-S55. doi: 10.1097/BPO.0000000000001386. PMID: 31169650
Fluoxetine and congenital malformations: a systematic review and meta-analysis of cohort studies.
Gao SY, Wu QJ, Zhang TN, Shen ZQ, Liu CX, Xu X, Ji C, Zhao YH
Br J Clin Pharmacol 2017 Oct;83(10):2134-2147. Epub 2017 Jun 10 doi: 10.1111/bcp.13321. PMID: 28513059Free PMC Article
Associated congenital anomalies among cases with Down syndrome.
Stoll C, Dott B, Alembik Y, Roth MP
Eur J Med Genet 2015 Dec;58(12):674-80. Epub 2015 Nov 11 doi: 10.1016/j.ejmg.2015.11.003. PMID: 26578241

Clinical prediction guides

Congenital Tibial Deficiency.
Litrenta J, Young M, Birch JG, Oetgen ME
J Am Acad Orthop Surg 2019 Mar 15;27(6):e268-e279. doi: 10.5435/JAAOS-D-16-00838. PMID: 30418269
Oligodactyly with Thumb.
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Associated congenital anomalies among cases with Down syndrome.
Stoll C, Dott B, Alembik Y, Roth MP
Eur J Med Genet 2015 Dec;58(12):674-80. Epub 2015 Nov 11 doi: 10.1016/j.ejmg.2015.11.003. PMID: 26578241
Whole-Organ Magnetic Resonance Imaging Score (WORMS) of the knee in osteoarthritis.
Peterfy CG, Guermazi A, Zaim S, Tirman PF, Miaux Y, White D, Kothari M, Lu Y, Fye K, Zhao S, Genant HK
Osteoarthritis Cartilage 2004 Mar;12(3):177-90. doi: 10.1016/j.joca.2003.11.003. PMID: 14972335
Congenital scoliosis.
Arlet V, Odent T, Aebi M
Eur Spine J 2003 Oct;12(5):456-63. Epub 2003 Jun 14 doi: 10.1007/s00586-003-0555-6. PMID: 14618384Free PMC Article

Recent systematic reviews

Malunion of the Tibia: A Systematic Review.
Patel I, Young J, Washington A, Vaidya R
Medicina (Kaunas) 2022 Mar 5;58(3) doi: 10.3390/medicina58030389. PMID: 35334565Free PMC Article
Best Practices: Hip Femoroacetabular Impingement.
Schmaranzer F, Kheterpal AB, Bredella MA
AJR Am J Roentgenol 2021 Mar;216(3):585-598. Epub 2021 Jan 21 doi: 10.2214/AJR.20.22783. PMID: 33474984Free PMC Article
Postural disorders in mouth breathing children: a systematic review.
Neiva PD, Kirkwood RN, Mendes PL, Zabjek K, Becker HG, Mathur S
Braz J Phys Ther 2018 Jan-Feb;22(1):7-19. Epub 2017 Jul 5 doi: 10.1016/j.bjpt.2017.06.011. PMID: 28709588Free PMC Article
Managing molar-incisor hypomineralization: A systematic review.
Elhennawy K, Schwendicke F
J Dent 2016 Dec;55:16-24. Epub 2016 Sep 28 doi: 10.1016/j.jdent.2016.09.012. PMID: 27693779
Structural Changes of Lumbar Muscles in Non-specific Low Back Pain: A Systematic Review.
Goubert D, Oosterwijck JV, Meeus M, Danneels L
Pain Physician 2016 Sep-Oct;19(7):E985-E1000. PMID: 27676689

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