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Fibular hemimelia

MedGen UID:
539380
Concept ID:
C0265634
Congenital Abnormality
Synonyms: Congenital longitudinal deficiency of the fibula; congenital longitudinal deficiency of the fibula; fibular hemimelia; Fibular longitudinal meromelia; fibular longitudinal meromelia; Longitudinal deficiency of fibula; Longitudinal reduction defect of fibula
SNOMED CT: Longitudinal deficiency of fibula (76744005); Longitudinal reduction defect of fibula (76744005)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0019672
Orphanet: ORPHA93323

Definition

A rare congenital limb malformation characterized by complete or partial absence of the fibula bone combined with dysplasia and hypoplasia of the tibia and dysplasia, hypoplasia or aplasia of parts of the foot. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFibular hemimelia

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

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
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
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
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
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

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
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
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

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
Radler C, Antonietti G, Ganger R, Grill F
Int Orthop 2011 Nov;35(11):1683-8. Epub 2011 May 3 doi: 10.1007/s00264-011-1266-y. PMID: 21537976Free 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
Davidson WH, Bohne WH
J Bone Joint Surg Am 1975 Oct;57(7):905-9. PMID: 1184639

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
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
Oberc A, Sułko J
J Pediatr Orthop B 2013 Sep;22(5):450-6. doi: 10.1097/BPB.0b013e32836330dd. PMID: 23807497
Rodriguez-Ramirez A, Thacker MM, Becerra LC, Riddle EC, Mackenzie WG
J Pediatr Orthop B 2010 Sep;19(5):436-40. doi: 10.1097/BPB.0b013e32832d5d7d. PMID: 20498623
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
Tsai A, Laor T, Estroff JA, Kasser JR
Pediatr Radiol 2018 Sep;48(10):1451-1462. Epub 2018 May 24 doi: 10.1007/s00247-018-4153-5. PMID: 29797037
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
Szoke G, Mackenzie WG, Domos G, Berki S, Kiss S, Bowen JR
Int Orthop 2011 May;35(5):755-9. Epub 2010 Mar 20 doi: 10.1007/s00264-010-0988-6. PMID: 20306192Free PMC Article
Rodriguez-Ramirez A, Thacker MM, Becerra LC, Riddle EC, Mackenzie WG
J Pediatr Orthop B 2010 Sep;19(5):436-40. doi: 10.1097/BPB.0b013e32832d5d7d. PMID: 20498623

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