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Abnormality of limb bone

MedGen UID:
868065
•Concept ID:
C4022456
•
Anatomical Abnormality
HPO: HP:0040068

Professional guidelines

PubMed

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Stress fractures: pathophysiology, clinical presentation, imaging features, and treatment options.
Matcuk GR Jr, Mahanty SR, Skalski MR, Patel DB, White EA, Gottsegen CJ
Emerg Radiol 2016 Aug;23(4):365-75. Epub 2016 Mar 22 doi: 10.1007/s10140-016-1390-5. PMID: 27002328
Evaluation and treatment of disorders of the infrapatellar fat pad.
Dragoo JL, Johnson C, McConnell J
Sports Med 2012 Jan 1;42(1):51-67. doi: 10.2165/11595680-000000000-00000. PMID: 22149697

Recent clinical studies

Etiology

Clinical and radiological outcomes of corrective exercises and neuromuscular electrical stimulation in children with flexible flatfeet: A randomized controlled trial.
Abd-Elmonem AM, El-Negamy EH, Mahran MA, Ramadan AT
Gait Posture 2021 Jul;88:297-303. Epub 2021 Jun 12 doi: 10.1016/j.gaitpost.2021.06.008. PMID: 34153808
Effects of selective strengthening of tibialis posterior and stretching of iliopsoas on navicular drop, dynamic balance, and lower limb muscle activity in pronated feet: A randomized clinical trial.
Alam F, Raza S, Moiz JA, Bhati P, Anwer S, Alghadir A
Phys Sportsmed 2019 Sep;47(3):301-311. Epub 2018 Dec 5 doi: 10.1080/00913847.2018.1553466. PMID: 30517043
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
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
Brachydactyly.
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free PMC Article

Diagnosis

Hypothesis: Symbrachydactyly.
Holmes LB, Nasri HZ
Am J Med Genet A 2022 Nov;188(11):3236-3241. Epub 2022 Sep 8 doi: 10.1002/ajmg.a.62941. PMID: 36073773
Congenital Radioulnar Synostosis.
Rutkowski PT, Samora JB
J Am Acad Orthop Surg 2021 Jul 1;29(13):563-570. doi: 10.5435/JAAOS-D-20-01133. PMID: 33826558
Overview of Metatarsalgia.
Charen DA, Markowitz JS, Cheung ZB, Matijakovich DJ, Chan JJ, Vulcano E
Orthopedics 2019 Jan 1;42(1):e138-e143. Epub 2018 Dec 13 doi: 10.3928/01477447-20181206-06. PMID: 30540873
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
Brachydactyly.
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free PMC Article

Therapy

Comprehensive corrective exercise program improves alignment, muscle activation and movement pattern of men with upper crossed syndrome: randomized controlled trial.
Seidi F, Bayattork M, Minoonejad H, Andersen LL, Page P
Sci Rep 2020 Nov 26;10(1):20688. doi: 10.1038/s41598-020-77571-4. PMID: 33244045Free PMC Article
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Osteogenesis Imperfecta: A Pediatric Orthopedic Perspective.
Franzone JM, Shah SA, Wallace MJ, Kruse RW
Orthop Clin North Am 2019 Apr;50(2):193-209. doi: 10.1016/j.ocl.2018.10.003. PMID: 30850078
Effects of selective strengthening of tibialis posterior and stretching of iliopsoas on navicular drop, dynamic balance, and lower limb muscle activity in pronated feet: A randomized clinical trial.
Alam F, Raza S, Moiz JA, Bhati P, Anwer S, Alghadir A
Phys Sportsmed 2019 Sep;47(3):301-311. Epub 2018 Dec 5 doi: 10.1080/00913847.2018.1553466. PMID: 30517043
Patellofemoral pain syndrome.
Petersen W, Ellermann A, Gösele-Koppenburg A, Best R, Rembitzki IV, Brüggemann GP, Liebau C
Knee Surg Sports Traumatol Arthrosc 2014 Oct;22(10):2264-74. Epub 2013 Nov 13 doi: 10.1007/s00167-013-2759-6. PMID: 24221245Free PMC Article

Prognosis

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
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
Brachydactyly.
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free PMC Article
Mycetoma.
Lewall DB, Ofole S, Bendl B
Skeletal Radiol 1985;14(4):257-62. doi: 10.1007/BF00352615. PMID: 4071099
Ulnar dysmelia.
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Clinical prediction guides

Congenital Radioulnar Synostosis.
Rutkowski PT, Samora JB
J Am Acad Orthop Surg 2021 Jul 1;29(13):563-570. doi: 10.5435/JAAOS-D-20-01133. PMID: 33826558
Effects of selective strengthening of tibialis posterior and stretching of iliopsoas on navicular drop, dynamic balance, and lower limb muscle activity in pronated feet: A randomized clinical trial.
Alam F, Raza S, Moiz JA, Bhati P, Anwer S, Alghadir A
Phys Sportsmed 2019 Sep;47(3):301-311. Epub 2018 Dec 5 doi: 10.1080/00913847.2018.1553466. PMID: 30517043
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
Thalidomide and neurotrophism.
Soper JR, Bonar SF, O'Sullivan DJ, McCredie J, Willert HG
Skeletal Radiol 2019 Apr;48(4):517-525. Epub 2018 Oct 19 doi: 10.1007/s00256-018-3086-2. PMID: 30341712Free PMC Article
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

Recent systematic reviews

Splinting for the non-operative management of developmental dysplasia of the hip (DDH) in children under six months of age.
Dwan K, Kirkham J, Paton RW, Morley E, Newton AW, Perry DC
Cochrane Database Syst Rev 2022 Oct 10;10(10):CD012717. doi: 10.1002/14651858.CD012717.pub2. PMID: 36214650Free PMC Article
Medical imaging for plantar heel pain: a systematic review and meta-analysis.
Drake C, Whittaker GA, Kaminski MR, Chen J, Keenan AM, Rathleff MS, Robinson P, Landorf KB
J Foot Ankle Res 2022 Jan 22;15(1):4. doi: 10.1186/s13047-021-00507-2. PMID: 35065676Free PMC Article
Nervous system involvement in Pfeiffer syndrome.
Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874
Clinical prevalence of palmaris longus agenesis: a systematic review and meta-analysis.
Yammine K
Clin Anat 2013 Sep;26(6):709-18. Epub 2013 Jul 3 doi: 10.1002/ca.22289. PMID: 23825029
The Charcot foot.
Jeffcoate W, Lima J, Nobrega L
Diabet Med 2000 Apr;17(4):253-8. doi: 10.1046/j.1464-5491.2000.00233.x. PMID: 10821290

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