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Hemimelia

MedGen UID:
9194
Concept ID:
C0018987
Congenital Abnormality
Synonyms: hemimelia; Longitudinal meromelia; longitudinal meromelia
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0016240
Orphanet: ORPHA2130

Definition

Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity. [from ORDO]

Term Hierarchy

Professional guidelines

PubMed

Nossov SB, Hollin IL, Phillips J, Franklin CC
J Am Acad Orthop Surg 2022 Jul 1;30(13):e899-e910. Epub 2022 Apr 28 doi: 10.5435/JAAOS-D-21-01186. PMID: 35486897
Bedoya MA, Chauvin NA, Jaramillo D, Davidson R, Horn BD, Ho-Fung V
Radiographics 2015 Jul-Aug;35(4):1191-207. doi: 10.1148/rg.2015140196. PMID: 26172360
Radler C, Myers AK, Hunter RJ, Arrabal PP, Herzenberg JE
Prenat Diagn 2014 Oct;34(10):940-5. Epub 2014 May 15 doi: 10.1002/pd.4396. PMID: 24764248

Recent clinical studies

Etiology

Isaacs-Itua A, Sedki I
Prosthet Orthot Int 2023 Feb 1;47(1):107-111. Epub 2022 Jun 22 doi: 10.1097/PXR.0000000000000154. PMID: 36791384
Popkov A, Pietrzak S, Antonov A, Parol T, Lazović M, Podeszwa D, Popkov D
J Pediatr Orthop 2021 Jul 1;41(6):e439-e447. doi: 10.1097/BPO.0000000000001816. PMID: 33782369
Zhang Z, Yi D, Xie R, Hamilton JL, Kang QL, Chen D
Ann N Y Acad Sci 2017 Dec;1409(1):67-78. Epub 2017 Oct 9 doi: 10.1111/nyas.13440. PMID: 28990185Free PMC Article
Bedoya MA, Chauvin NA, Jaramillo D, Davidson R, Horn BD, Ho-Fung V
Radiographics 2015 Jul-Aug;35(4):1191-207. doi: 10.1148/rg.2015140196. PMID: 26172360
Bergère A, Amzallag-Bellenger E, Lefebvre G, Dieux-Coeslier A, Mezel A, Herbaux B, Boutry N
Diagn Interv Imaging 2015 Sep;96(9):901-14. Epub 2015 Apr 24 doi: 10.1016/j.diii.2014.08.008. PMID: 25920687

Diagnosis

Isaacs-Itua A, Sedki I
Prosthet Orthot Int 2023 Feb 1;47(1):107-111. Epub 2022 Jun 22 doi: 10.1097/PXR.0000000000000154. PMID: 36791384
Georgescu T, Ionescu O, Toader OD, Bacalbasa N, Pop LG
J Med Life 2022 Apr;15(4):587-588. doi: 10.25122/jml-2021-0397. PMID: 35646168Free PMC Article
Wilcox WR, Coulter CP, Schmitz ML
Clin Perinatol 2015 Jun;42(2):281-300, viii. doi: 10.1016/j.clp.2015.02.004. PMID: 26042905
Bergère A, Amzallag-Bellenger E, Lefebvre G, Dieux-Coeslier A, Mezel A, Herbaux B, Boutry N
Diagn Interv Imaging 2015 Sep;96(9):901-14. Epub 2015 Apr 24 doi: 10.1016/j.diii.2014.08.008. PMID: 25920687
Radler C, Myers AK, Hunter RJ, Arrabal PP, Herzenberg JE
Prenat Diagn 2014 Oct;34(10):940-5. Epub 2014 May 15 doi: 10.1002/pd.4396. PMID: 24764248

Therapy

Elmherig A, Ahmed AF, Hegazy A, Herzenberg JE, Ibrahim T
J Pediatr Orthop 2020 Sep;40(8):425-430. doi: 10.1097/BPO.0000000000001510. PMID: 31972725
Mishima K, Kitoh H, Iwata K, Matsushita M, Nishida Y, Hattori T, Ishiguro N
Medicine (Baltimore) 2016 May;95(21):e3787. doi: 10.1097/MD.0000000000003787. PMID: 27227952Free PMC Article
Shabtai L, Specht SC, Standard SC, Herzenberg JE
Clin Orthop Relat Res 2014 Dec;472(12):3860-8. doi: 10.1007/s11999-014-3572-3. PMID: 24664194Free PMC Article
Catagni MA, Radwan M, Lovisetti L, Guerreschi F, Elmoghazy NA
Clin Orthop Relat Res 2011 Apr;469(4):1175-80. Epub 2010 Oct 21 doi: 10.1007/s11999-010-1635-7. PMID: 20963528Free PMC Article
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Prognosis

Ghaly HM, El-Rosasy MA, Marei AE, El-Gebaly OA
J Orthop Surg Res 2023 Nov 8;18(1):844. doi: 10.1186/s13018-023-04229-y. PMID: 37936235Free PMC Article
Nossov SB, Hollin IL, Phillips J, Franklin CC
J Am Acad Orthop Surg 2022 Jul 1;30(13):e899-e910. Epub 2022 Apr 28 doi: 10.5435/JAAOS-D-21-01186. PMID: 35486897
Bedoya MA, Chauvin NA, Jaramillo D, Davidson R, Horn BD, Ho-Fung V
Radiographics 2015 Jul-Aug;35(4):1191-207. doi: 10.1148/rg.2015140196. PMID: 26172360
Bergère A, Amzallag-Bellenger E, Lefebvre G, Dieux-Coeslier A, Mezel A, Herbaux B, Boutry N
Diagn Interv Imaging 2015 Sep;96(9):901-14. Epub 2015 Apr 24 doi: 10.1016/j.diii.2014.08.008. PMID: 25920687
Caskey PM, Lester EL
J Pediatr Orthop 2002 Jul-Aug;22(4):522-5. PMID: 12131452

Clinical prediction guides

Morris EJ, Tofts L, Patterson M, Birke O, Adams R, Epps A, Knox K, McKay MJ, Baldwin JN, Burns J, Pacey V
Disabil Rehabil 2022 Jun;44(12):2763-2773. Epub 2020 Dec 17 doi: 10.1080/09638288.2020.1849420. PMID: 33331793
Mishima K, Kitoh H, Iwata K, Matsushita M, Nishida Y, Hattori T, Ishiguro N
Medicine (Baltimore) 2016 May;95(21):e3787. doi: 10.1097/MD.0000000000003787. PMID: 27227952Free PMC Article
Wada A, Nakamura T, Urano N, Kubota H, Oketani Y, Taketa M, Fujii T
J Pediatr Orthop B 2015 Mar;24(2):147-53. doi: 10.1097/BPB.0000000000000149. PMID: 25622236
Kantaputra PN
Am J Med Genet 2001 Jan 22;98(3):210-5. doi: 10.1002/1096-8628(20010122)98:3<210::aid-ajmg1085>3.0.co;2-7. PMID: 11169557
Fernandez-Palazzi F, Bendahan J, Rivas S
J Pediatr Orthop B 1998 Oct;7(4):298-302. doi: 10.1097/01202412-199810000-00008. PMID: 9810529

Recent systematic reviews

Elmherig A, Ahmed AF, Hegazy A, Herzenberg JE, Ibrahim T
J Pediatr Orthop 2020 Sep;40(8):425-430. doi: 10.1097/BPO.0000000000001510. PMID: 31972725

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