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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
Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
Fetal CT.
Brunelle F, Sonigo P, Simon I
Childs Nerv Syst 2003 Aug;19(7-8):415-7. Epub 2003 Aug 14 doi: 10.1007/s00381-003-0789-y. PMID: 12920540
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

Radial Ray Malformation.
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
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
Upper-extremity congenital anomalies.
Kozin SH
J Bone Joint Surg Am 2003 Aug;85(8):1564-76. doi: 10.2106/00004623-200308000-00021. PMID: 12925640
The Coffin-Lowry syndrome.
Young ID
J Med Genet 1988 May;25(5):344-8. doi: 10.1136/jmg.25.5.344. PMID: 3290491Free PMC Article
Endemic skeletal fluorosis.
Teotia M, Teotia SP, Kunwar KB
Arch Dis Child 1971 Oct;46(249):686-91. doi: 10.1136/adc.46.249.686. PMID: 5118057Free PMC Article

Therapy

Skeletal Fluorosis.
Meena L, Gupta R
N Engl J Med 2021 Oct 14;385(16):1510. Epub 2021 Oct 9 doi: 10.1056/NEJMicm2103503. PMID: 34623787
Radial Ray Malformation.
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
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
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
Phenocopies.
Lenz W
J Med Genet 1973 Mar;10(1):34-49. doi: 10.1136/jmg.10.1.34. PMID: 4354695Free 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
Yunis-Varon syndrome.
Bhatia S, Holla RG
Indian Pediatr 2005 Apr;42(4):373-5. PMID: 15876600
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
Spondylometaphyseal dysplasia-Sedaghatian type.
Elçioglu N, Hall CM
Am J Med Genet 1998 Apr 13;76(5):410-4. PMID: 9556300

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
Ulnar ray deficiency.
Schmidt CC, Neufeld SK
Hand Clin 1998 Feb;14(1):65-76. PMID: 9526157
Torsional deformity.
Staheli LT
Pediatr Clin North Am 1986 Dec;33(6):1373-83. doi: 10.1016/s0031-3955(16)36148-x. PMID: 3786004

Recent systematic reviews

Efficacy and safety of asfotase alfa in patients with hypophosphatasia: A systematic review.
Shirinezhad A, Esmaeili S, Azarboo A, Tavakoli Y, Hoveidaei AH, Zareshahi N, Ghaseminejad-Raeini A
Bone 2024 Nov;188:117219. Epub 2024 Jul 31 doi: 10.1016/j.bone.2024.117219. PMID: 39089608
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
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
Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
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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