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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

Growth reference charts for children with hypochondroplasia.
Cheung MS, Cole TJ, Arundel P, Bridges N, Burren CP, Cole T, Davies JH, Hagenäs L, Högler W, Hulse A, Mason A, McDonnell C, Merker A, Mohnike K, Sabir A, Skae M, Rothenbuhler A, Warner J, Irving M
Am J Med Genet A 2024 Feb;194(2):243-252. Epub 2023 Oct 9 doi: 10.1002/ajmg.a.63431. PMID: 37814549
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
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
Craniofrontonasal dysplasia.
Kapusta L, Brunner HG, Hamel BC
Eur J Pediatr 1992 Nov;151(11):837-41. doi: 10.1007/BF01957936. PMID: 1468459

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
Generalized skeletal abnormalities.
Watt AJ, Chung KC
Hand Clin 2009 May;25(2):265-76. doi: 10.1016/j.hcl.2008.12.008. PMID: 19380065

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
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
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
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
Craniofrontonasal dysplasia.
Kapusta L, Brunner HG, Hamel BC
Eur J Pediatr 1992 Nov;151(11):837-41. doi: 10.1007/BF01957936. PMID: 1468459
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
Ulnar dysmelia.
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Recent systematic reviews

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
Surgical interventions of Freiberg's disease: A systematic review.
Alhadhoud MA, Alsiri NF, Daniels TR, Glazebrook MA
Foot Ankle Surg 2021 Aug;27(6):606-614. Epub 2020 Aug 27 doi: 10.1016/j.fas.2020.08.005. PMID: 32917526
Anatomy and clinical significance of sacral variations: a systematic review.
Nastoulis E, Karakasi MV, Pavlidis P, Thomaidis V, Fiska A
Folia Morphol (Warsz) 2019;78(4):651-667. Epub 2019 Apr 5 doi: 10.5603/FM.a2019.0040. PMID: 30949993
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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