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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

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
Polydactyly, postaxial, type B.
Holmes LB, Nasri H, Hunt AT, Toufaily MH, Westgate MN
Birth Defects Res 2018 Jan;110(2):134-141. doi: 10.1002/bdr2.1184. PMID: 29377639
Heterogeneous Diagnoses Underlying Radial Ray Anomalies.
Sevilla-Montoya R, Aguinaga M, Martínez A, Razo G, Molina B, Frías S, Grether P
Indian J Pediatr 2017 Mar;84(3):200-205. Epub 2016 Dec 17 doi: 10.1007/s12098-016-2270-4. PMID: 27987078
Macrodactyly.
Kotwal PP, Farooque M
J Bone Joint Surg Br 1998 Jul;80(4):651-3. doi: 10.1302/0301-620x.80b4.8489. PMID: 9699830

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
Aetiology, diagnosis, and treatment of brachymetatarsia: a narrative review.
Fusini F, Alessandro M, Rava A, Kristijan Z, Felli L, Colò G
Musculoskelet Surg 2022 Jun;106(2):99-109. Epub 2021 Jul 15 doi: 10.1007/s12306-021-00720-z. PMID: 34268706
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
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
Genetics of patella hypoplasia/agenesis.
Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497

Therapy

Effects of short foot exercise combined with lower extremity training on dynamic foot function in individuals with flexible flatfoot: A randomized controlled trial.
Utsahachant N, Sakulsriprasert P, Sinsurin K, Jensen MP, Sungkue S
Gait Posture 2023 Jul;104:109-115. Epub 2023 Jun 22 doi: 10.1016/j.gaitpost.2023.06.013. PMID: 37379736
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
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
Treatment of Freiberg Disease.
Seybold JD, Zide JR
Foot Ankle Clin 2018 Mar;23(1):157-169. doi: 10.1016/j.fcl.2017.09.011. PMID: 29362030
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

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
Triple arthrodesis.
Fortin PT, Walling AK
Clin Orthop Relat Res 1999 Aug;(365):91-9. doi: 10.1097/00003086-199908000-00012. PMID: 10627691
Macrodactyly.
Kotwal PP, Farooque M
J Bone Joint Surg Br 1998 Jul;80(4):651-3. doi: 10.1302/0301-620x.80b4.8489. PMID: 9699830
Ulnar dysmelia.
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Clinical prediction guides

Effects of short foot exercise combined with lower extremity training on dynamic foot function in individuals with flexible flatfoot: A randomized controlled trial.
Utsahachant N, Sakulsriprasert P, Sinsurin K, Jensen MP, Sungkue S
Gait Posture 2023 Jul;104:109-115. Epub 2023 Jun 22 doi: 10.1016/j.gaitpost.2023.06.013. PMID: 37379736
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
Genetics of patella hypoplasia/agenesis.
Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996Free 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

Talectomy for arthrogrypotic foot deformities: A systematic review.
Chergui S, Al-Ali H, Marwan Y, Abu Dalu K, Dahan-Oliel N, Hamdy RC
Foot Ankle Surg 2023 Jan;29(1):15-21. Epub 2022 Oct 15 doi: 10.1016/j.fas.2022.10.002. PMID: 36266132
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
Nonunion of the coracoid process: a systematic review.
Ogawa K, Matsumura N, Yoshida A
Arch Orthop Trauma Surg 2021 Nov;141(11):1877-1888. Epub 2020 Oct 30 doi: 10.1007/s00402-020-03657-3. PMID: 33125544
Limits of Growth Modulation Using Tension Band Plates in the Lower Extremities.
Shabtai L, Herzenberg JE
J Am Acad Orthop Surg 2016 Oct;24(10):691-701. doi: 10.5435/JAAOS-D-14-00234. PMID: 27564792
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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