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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.
See: This record
Not genetically inherited (Orphanet)
 
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

Proximal Femoral Focal Deficiency/Congenital Femoral Deficiency: Evaluation and Management.
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
Common Patterns of Congenital Lower Extremity Shortening: Diagnosis, Classification, and Follow-up.
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
Prenatal diagnosis of congenital femoral deficiency and fibular hemimelia.
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

Simultaneous femoral and tibial lengthening for severe limb length discrepancy in fibular hemimelia.
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
Fibular hemimelia and risk of patellar dislocations: A case series.
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
Prenatal diagnosis of type 1 fibular hemimelia.
Yakut ZI, Ipek A, Akkaya H, Arslan H
J Med Ultrason (2001) 2014 Oct;41(4):515-9. Epub 2014 Jul 16 doi: 10.1007/s10396-014-0550-z. PMID: 27278036
Limb sparing reconstructive surgery and Ilizarov lengthening in fibular hemimelia of Achterman-Kalamchi type II patients.
El-Sayed MM, Correll J, Pohlig K
J Pediatr Orthop B 2010 Jan;19(1):55-60. doi: 10.1097/BPB.0b013e32832f5ace. PMID: 19741550
Clinical examination and investigation of the cruciate ligaments in children with fibular hemimelia.
Roux MO, Carlioz H
J Pediatr Orthop 1999 Mar-Apr;19(2):247-51. doi: 10.1097/00004694-199903000-00022. PMID: 10088698

Diagnosis

Fibular hemimelia.
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
Congenital Absence of the Anterior Cruciate Ligament.
Murali J, Monchik K, Fadale P
Am J Orthop (Belle Mead NJ) 2015 Aug;44(8):E283-5. PMID: 26251945
Prenatal diagnosis of type 1 fibular hemimelia.
Yakut ZI, Ipek A, Akkaya H, Arslan H
J Med Ultrason (2001) 2014 Oct;41(4):515-9. Epub 2014 Jul 16 doi: 10.1007/s10396-014-0550-z. PMID: 27278036
Antenatal sonographic diagnosis of isolated bilateral fibular hemimelia.
Abel DE, Hertzberg BS, James AH
J Ultrasound Med 2002 Jul;21(7):811-5. doi: 10.7863/jum.2002.21.7.811. PMID: 12099571
Prenatal diagnosis of bilateral fibular hemimelia.
Uffelman J, Woo R, Richards DS
J Ultrasound Med 2000 May;19(5):341-4. PMID: 10811409

Therapy

Management of a Broken PRECICE Femoral Nail at an Ununited Distraction Osteogenesis Site: A Case Report.
Hidden KA, Dahl MT, Ly TV
JBJS Case Connect 2020 Jan-Mar;10(1):e0267. doi: 10.2106/JBJS.CC.19.00267. PMID: 32224648
Massage therapy effects in a long-term prosthetic user with fibular hemimelia.
Larson ER
J Bodyw Mov Ther 2015 Apr;19(2):261-7. Epub 2014 Apr 18 doi: 10.1016/j.jbmt.2014.04.005. PMID: 25892381
Proximal femoral focal deficiency and fibular hemimelia associated with misoprostol use: a case report.
Marchese JW, Mullen MG, Doherty JH Jr
Clin Dysmorphol 2012 Oct;21(4):229-230. doi: 10.1097/MCD.0b013e3283590a95. PMID: 22922315
Limb lengthening in fibular hemimelia type II: can it be an alternative to amputation?
Zarzycki D, Jasiewicz B, Kacki W, Koniarski A, Kasprzyk M, Zarzycka M, Tesiorowski M
J Pediatr Orthop B 2006 Mar;15(2):147-53. doi: 10.1097/01.bpb.0000184949.00546.04. PMID: 16436952
The Syme amputation in children.
Davidson WH, Bohne WH
J Bone Joint Surg Am 1975 Oct;57(7):905-9. PMID: 1184639

Prognosis

Simultaneous femoral and tibial lengthening for severe limb length discrepancy in fibular hemimelia.
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
Imaging features of lower limb malformations above the foot.
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
Prenatal diagnosis of type 1 fibular hemimelia.
Yakut ZI, Ipek A, Akkaya H, Arslan H
J Med Ultrason (2001) 2014 Oct;41(4):515-9. Epub 2014 Jul 16 doi: 10.1007/s10396-014-0550-z. PMID: 27278036
Limb sparing reconstructive surgery and Ilizarov lengthening in fibular hemimelia of Achterman-Kalamchi type II patients.
El-Sayed MM, Correll J, Pohlig K
J Pediatr Orthop B 2010 Jan;19(1):55-60. doi: 10.1097/BPB.0b013e32832f5ace. PMID: 19741550
Limb lengthening in fibular hemimelia type II: can it be an alternative to amputation?
Zarzycki D, Jasiewicz B, Kacki W, Koniarski A, Kasprzyk M, Zarzycka M, Tesiorowski M
J Pediatr Orthop B 2006 Mar;15(2):147-53. doi: 10.1097/01.bpb.0000184949.00546.04. PMID: 16436952

Clinical prediction guides

Physical performance of children with longitudinal fibular deficiency (fibular hemimelia).
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
Ankle reconstruction and lengthening strategy in type II fibular hemimelia: a report of two cases.
Sulaiman AR, Munajat I, Mohd EF
Foot (Edinb) 2018 Sep;36:6-9. Epub 2018 Jan 11 doi: 10.1016/j.foot.2018.01.001. PMID: 30041040
Clinical Results and Complications of Lower Limb Lengthening for Fibular Hemimelia: A Report of Eight Cases.
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
Bilateral total knee replacement in a congenital amputee with bilateral fibular deficiency.
Dudhniwala AG, Singh S, Morgan-Jones R
Knee 2011 Dec;18(6):488-90. Epub 2010 Sep 21 doi: 10.1016/j.knee.2010.08.013. PMID: 20858574
Limb lengthening in fibular hemimelia type II: can it be an alternative to amputation?
Zarzycki D, Jasiewicz B, Kacki W, Koniarski A, Kasprzyk M, Zarzycka M, Tesiorowski M
J Pediatr Orthop B 2006 Mar;15(2):147-53. doi: 10.1097/01.bpb.0000184949.00546.04. PMID: 16436952

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