U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal upper limb bone morphology

MedGen UID:
868067
•Concept ID:
C4022458
•
Anatomical Abnormality
Synonym: Abnormal morphology of bones of the upper limbs
 
HPO: HP:0040070

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal upper limb bone morphology

Professional guidelines

PubMed

Radial Longitudinal Deficiency: Recent Developments, Controversies, and an Evidence-Based Guide to Treatment.
Colen DL, Lin IC, Levin LS, Chang B
J Hand Surg Am 2017 Jul;42(7):546-563. doi: 10.1016/j.jhsa.2017.04.012. PMID: 28669420
Inherited thrombocytopenias: an approach to diagnosis and management.
Geddis AE
Int J Lab Hematol 2013 Feb;35(1):14-25. Epub 2012 Jul 30 doi: 10.1111/j.1751-553X.2012.01454.x. PMID: 22846067
Management of posttraumatic radioulnar synostosis.
Bergeron SG, Desy NM, Bernstein M, Harvey EJ
J Am Acad Orthop Surg 2012 Jul;20(7):450-8. doi: 10.5435/JAAOS-20-07-450. PMID: 22751164

Recent clinical studies

Etiology

Clinical Presentations and Diagnostic Imaging of VACTERL Association.
Tonni G, Koçak Ç, Grisolia G, Rizzo G, Araujo Júnior E, Werner H, Ruano R, Sepulveda W, Bonasoni MP, Lituania M; “International Perinatology Research Group (IPRG)”
Fetal Pediatr Pathol 2023 Aug;42(4):651-674. Epub 2023 May 17 doi: 10.1080/15513815.2023.2206905. PMID: 37195727
Hereditary spastic paraplegia.
Blackstone C
Handb Clin Neurol 2018;148:633-652. doi: 10.1016/B978-0-444-64076-5.00041-7. PMID: 29478605
Achondroplasia: Really rhizomelic?
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098
Wolcott-Rallison syndrome.
Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479Free 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

Diagnosis

Clinical Presentations and Diagnostic Imaging of VACTERL Association.
Tonni G, Koçak Ç, Grisolia G, Rizzo G, Araujo Júnior E, Werner H, Ruano R, Sepulveda W, Bonasoni MP, Lituania M; “International Perinatology Research Group (IPRG)”
Fetal Pediatr Pathol 2023 Aug;42(4):651-674. Epub 2023 May 17 doi: 10.1080/15513815.2023.2206905. PMID: 37195727
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
Radial longitudinal deficiency.
Maschke SD, Seitz W, Lawton J
J Am Acad Orthop Surg 2007 Jan;15(1):41-52. doi: 10.5435/00124635-200701000-00005. PMID: 17213381
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

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
Fetal Valproate Syndrome.
Mutlu-Albayrak H, Bulut C, Çaksen H
Pediatr Neonatol 2017 Apr;58(2):158-164. Epub 2016 Jun 17 doi: 10.1016/j.pedneo.2016.01.009. PMID: 27422007
Cone-shaped epiphysis.
Durmus O, Cakar E, Ata E, Dincer U, Kiralp MZ
Am J Phys Med Rehabil 2014 Jan;93(1):92-3. doi: 10.1097/PHM.0b013e3182644034. PMID: 22854906
Phenocopies.
Lenz W
J Med Genet 1973 Mar;10(1):34-49. doi: 10.1136/jmg.10.1.34. PMID: 4354695Free PMC Article

Prognosis

Wolcott-Rallison syndrome.
Julier C, Nicolino M
Orphanet J Rare Dis 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. PMID: 21050479Free 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
The painful shoulder.
Bland JH, Merrit JA, Boushey DR
Semin Arthritis Rheum 1977 Aug;7(1):21-47. doi: 10.1016/s0049-0172(77)80003-6. PMID: 71760
Mesomelic skeletal dysplasias.
Kaitila I, Leisti JT, Rimoin DL
Clin Orthop Relat Res 1976 Jan-Feb;(114):94-106. PMID: 1261139
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
Achondroplasia: Really rhizomelic?
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098
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
The painful shoulder.
Bland JH, Merrit JA, Boushey DR
Semin Arthritis Rheum 1977 Aug;7(1):21-47. doi: 10.1016/s0049-0172(77)80003-6. PMID: 71760
Ulnar dysmelia.
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Recent systematic reviews

Pollicization in the treatment of congenital severe hypoplasia and aplasia of the thumb: a systematic review.
De Almeida YK, Athlani L, Piessat C, Delgove A, Dap F, Dautel G
Hand Surg Rehabil 2022 Feb;41(1):22-30. Epub 2021 Oct 21 doi: 10.1016/j.hansur.2021.10.311. PMID: 34687972
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 prevalence of Os acromiale: a systematic review and meta-analysis.
Yammine K
Clin Anat 2014 May;27(4):610-21. Epub 2013 Dec 2 doi: 10.1002/ca.22343. PMID: 24302513
Radiotherapy for prevention of heterotopic ossification of the elbow: a systematic review of the literature.
Ploumis A, Belbasis L, Ntzani E, Tsekeris P, Xenakis T
J Shoulder Elbow Surg 2013 Nov;22(11):1580-8. doi: 10.1016/j.jse.2013.07.045. PMID: 24138821
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...