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Abnormality of limbs

MedGen UID:
536898
•Concept ID:
C0239337
•
Anatomical Abnormality
Synonyms: Limb abnormalities; Limb anomalies; Limb deformities
SNOMED CT: Deformity of limb (445144002)
 
HPO: HP:0040064

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormality of limbs

Professional guidelines

PubMed

Update in the management of lipedema.
Forner-Cordero I, Forner-Cordero A, Szolnoky G
Int Angiol 2021 Aug;40(4):345-357. Epub 2021 Apr 19 doi: 10.23736/S0392-9590.21.04604-6. PMID: 33870676
The Interdisciplinary Management of Foot Drop.
Carolus AE, Becker M, Cuny J, Smektala R, Schmieder K, Brenke C
Dtsch Arztebl Int 2019 May 17;116(20):347-354. doi: 10.3238/arztebl.2019.0347. PMID: 31288916Free PMC Article
Flatfeet: Biomechanical implications, assessment and management.
Kodithuwakku Arachchige SNK, Chander H, Knight A
Foot (Edinb) 2019 Mar;38:81-85. Epub 2019 Feb 11 doi: 10.1016/j.foot.2019.02.004. PMID: 30844660

Recent clinical studies

Etiology

Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Radiography, CT, and MRI of Hip and Lower Limb Disorders in Children and Adolescents.
Silva MS, Fernandes ARC, Cardoso FN, Longo CH, Aihara AY
Radiographics 2019 May-Jun;39(3):779-794. doi: 10.1148/rg.2019180101. PMID: 31059403
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
Coccygeal pits.
Weprin BE, Oakes WJ
Pediatrics 2000 May;105(5):E69. doi: 10.1542/peds.105.5.e69. PMID: 10799633

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
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Polydactyly: A Review.
Farrugia MC, Calleja-Agius J
Neonatal Netw 2016;35(3):135-42. doi: 10.1891/0730-0832.35.3.135. PMID: 27194607
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
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

The combined effect of short foot exercises and orthosis in symptomatic flexible flatfoot: a randomized controlled trial.
Elsayed W, Alotaibi S, Shaheen A, Farouk M, Farrag A
Eur J Phys Rehabil Med 2023 Jun;59(3):396-405. Epub 2023 Mar 29 doi: 10.23736/S1973-9087.23.07846-2. PMID: 36988565Free PMC Article
A comprehensive exercise program improves foot alignment in people with flexible flat foot: a randomised trial.
Brijwasi T, Borkar P
J Physiother 2023 Jan;69(1):42-46. Epub 2022 Dec 14 doi: 10.1016/j.jphys.2022.11.011. PMID: 36526555
Evidence for foot orthoses for adults with flatfoot: a systematic review.
Herchenröder M, Wilfling D, Steinhäuser J
J Foot Ankle Res 2021 Nov 29;14(1):57. doi: 10.1186/s13047-021-00499-z. PMID: 34844639Free 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

Prognosis

Persistent sciatic vein.
Büyükertan M, Söztanacı US, Balcıoğlu HA
Folia Morphol (Warsz) 2022;81(4):1062-1065. Epub 2021 Sep 21 doi: 10.5603/FM.a2021.0091. PMID: 34545558
Campomelic dysplasia.
Jain V, Sen B
J Pediatr Orthop B 2014 Sep;23(5):485-8. doi: 10.1097/BPB.0000000000000058. PMID: 24800790
A review of supernumerary and absent limbs and digits of the upper limb.
Klaassen Z, Choi M, Musselman R, Eapen D, Tubbs RS, Loukas M
Surg Radiol Anat 2012 Mar;34(2):101-6. Epub 2011 Nov 9 doi: 10.1007/s00276-011-0871-1. PMID: 22068244
Skewfoot.
Hagmann S, Dreher T, Wenz W
Foot Ankle Clin 2009 Sep;14(3):409-34. doi: 10.1016/j.fcl.2009.06.003. PMID: 19712883
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

Clinical prediction guides

Clinical and genetic approach in the characterization of newborns with anorectal malformation.
Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G
J Matern Fetal Neonatal Med 2022 Dec;35(23):4513-4520. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1854213. PMID: 36062518
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
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
Radial Polydactyly. What's New?
Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M
Curr Pediatr Rev 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. PMID: 29366421

Recent systematic reviews

The effects of short foot exercises to treat flat foot deformity: A systematic review.
Hara S, Kitano M, Kudo S
J Back Musculoskelet Rehabil 2023;36(1):21-33. doi: 10.3233/BMR-210374. PMID: 35871320
Risk Factors of Flatfoot in Children: A Systematic Review and Meta-Analysis.
Xu L, Gu H, Zhang Y, Sun T, Yu J
Int J Environ Res Public Health 2022 Jul 6;19(14) doi: 10.3390/ijerph19148247. PMID: 35886097Free 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
Evidence for foot orthoses for adults with flatfoot: a systematic review.
Herchenröder M, Wilfling D, Steinhäuser J
J Foot Ankle Res 2021 Nov 29;14(1):57. doi: 10.1186/s13047-021-00499-z. PMID: 34844639Free PMC Article
Physical therapy in Down syndrome: systematic review and meta-analysis.
Ruiz-González L, Lucena-Antón D, Salazar A, Martín-Valero R, Moral-Munoz JA
J Intellect Disabil Res 2019 Aug;63(8):1041-1067. Epub 2019 Feb 20 doi: 10.1111/jir.12606. PMID: 30788876

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