Fibular Hemimelia Workup

  • Author: Michael C Holmstrom, MD; Chief Editor: Carlos J Lavernia, MD, FAAOS   more...
 
Updated: Sep 17, 2010
 

Imaging Studies

Judicious use of appropriate imaging studies is necessary to fully evaluate and treat postaxial hypoplasia of the lower extremity (fibular hemimelia). Some of the more pertinent radiographic studies are listed below.

  • A long-leg standing series shows the overall picture of the affected lower extremity and permits use of the contralateral side as a control. Limb-length discrepancies and alignment can be measured. Abnormalities in specific parts of the lower extremity can be seen and, if necessary, imaged further with specific views.
  • A pelvis and/or hip series is useful in evaluating acetabular dysplasia, PFFD, and the location and amount of any varus deformity. Changing the rotation of the femur can sometimes show version and varus/valgus deformity more clearly.
  • A knee series is useful for evaluating distal femur valgus, hypoplasia of the lateral femoral condyle, and flattening of the tibial eminence.[13] The patella may be small and/or high riding, and the femoral sulcus may be shallow.
  • A tibia/fibula series provides information about the tibia. In several studies, a small percentage of patients showed anteromedial bowing of the tibia. This imaging series is also useful for classifying the disorder. The Achterman and Kalamchi classification system is based on fibular morphology as follows[3] :
    • Type IA: The proximal fibular epiphysis is distal to the level of the tibial growth plate with the distal fibular epiphysis proximal to the talar dome. See the image below. Type 1A fibular hemimelia in an 8-year-old boy. SiType 1A fibular hemimelia in an 8-year-old boy. Significant valgus hindfoot is due to the shortened fibula. Image courtesy of Dennis P. Grogan, MD.
    • Type IB: The proximal fibula is absent for 30-50% of its length. The distal fibula is present but does not adequately support the ankle. See the images below. Type 1B fibular hemimelia in a 3-year-old boy. TheType 1B fibular hemimelia in a 3-year-old boy. The fibula is short relative to the tibia, and the tibia is shorter on the affected side. Note that the tibia is also mildly bowed. Image courtesy of Dennis P. Grogan, MD. Fibular hemimelia in the same patient as in the imFibular hemimelia in the same patient as in the image above. By the age of 5 years, the limb-length discrepancy is progressive and significant. Image courtesy of Dennis P. Grogan, MD.
    • Type II: The fibula is completely absent. See the images below.Type 2 fibular hemimelia and a significant anterioType 2 fibular hemimelia and a significant anterior bow to the tibia in a 9-month-old boy. Image courtesy of Dennis P. Grogan, MD. Fibular hemimelia in the same patient as in the imFibular hemimelia in the same patient as in the image above. Because the tibial bowing caused prosthetic fitting problems, corrective osteotomy was performed. Image courtesy of Dennis P. Grogan, MD.
  • An ankle/foot series is useful for determining ankle morphology, the fibular contribution to the mortise, distal tibial epiphyseal morphology, the presence of tibiotalar valgus, the presence of a ball-and-socket ankle, the presence of a tarsal coalition, and the number of rays.[14] These factors can be used to classify the fibular hemimelia by using the following system introduced by Stanitski and Stanitski.[15] A pattern type is constructed to describe the condition. (For example, a patient with a hypoplastic fibula, a horizontal ankle, tarsal coalition, and a 5-ray foot is classified as having a type IIHc5 fibular hemimelia.) This system should lead to better communication on this condition.
    • Fibula
      • I - Nearly normal
      • II - Small or miniature fibula, regardless of its position in the limb
      • III - Complete absence of the fibula
    • Tibiotalar joint and distal tibial epiphyseal morphology
      • H - Horizontal
      • V - Valgus (triangular distal tibial epiphysis)
      • S - Spherical (ball and socket ankle)
    • Presence of a tarsal coalition (denoted with a lowercase c)
    • Number of foot rays, medial to lateral - Denoted 1-5
Proceed to Treatment & Management
 
 
Contributor Information and Disclosures
Author

Michael C Holmstrom, MD  Consulting Surgeon, Department of Orthopedics, The Orthopedic Specialty Hospital (TOSH)

Michael C Holmstrom, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, Arthroscopy Association of North America, Pediatric Orthopaedic Society of North America, and Utah Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Peter M Stevens, MD  Professor, Director of Pediatric Orthopedic Fellowship Program, Department of Orthopedics, University of Utah School of Medicine

Peter M Stevens, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Orthopaedic Surgeons, American Orthopaedic Association, Limb Lengthening and Reconstruction Society ASAMI-North America, Pediatric Orthopaedic Society of North America, Utah Medical Association, and Western Orthopaedic Association

Disclosure: Orthofix Inc Royalty Independent contractor

Specialty Editor Board

Dennis P Grogan, MD  Clinical Professor, Department of Orthopedic Surgery, University of South Florida College of Medicine; Chief of Staff, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa

Dennis P Grogan, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Eastern Orthopaedic Association, Irish American Orthopaedic Society, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Thomas M DeBerardino, MD  Associate Professor, Department of Orthopedic Surgery, Consulting Surgeon, Sports Medicine, Arthroscopy and Reconstruction of the Knee, Hip and Shoulder, Team Physician, Orthopedic Consultant to UConn Department of Athletics, University of Connecticut Health Center

Thomas M DeBerardino, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Association, and American Orthopaedic Society for Sports Medicine

Disclosure: Arthrex, Inc. Grant/research funds Other; Arthrex, Inc. Consulting fee Speaking and teaching; Genzyme Biosurgery. Inc. Grant/research funds Other; Musculoskeletal Transplant Foundation Grant/research funds Other; Histogenics Grant/research funds None

Dinesh Patel, MD, FACS  Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital

Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons

Disclosure: Nothing to disclose.

Chief Editor

Carlos J Lavernia, MD, FAAOS  Adjunct Clinical Professor, Department of Orthopedic Surgery, University of Miami School of Medicine; Medical Director, Orthopedic Institute at Mercy Hospital

Carlos J Lavernia, MD, FAAOS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association of Hip and Knee Surgeons, Arthritis Foundation, Biomedical Engineering Society, Florida Orthopaedic Society, and Orthopaedic Research Society

Disclosure: Zimmer Stock Implant Designer

References

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  3. Achterman C, Kalamchi A. Congenital deficiency of the fibula. J Bone Joint Surg Br. May 1979;61-B(2):133-7. [Medline].

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  10. Monteagudo A, Dong R, Timor-Tritsch IE. Fetal fibular hemimelia: case report and review of the literature. J Ultrasound Med. Apr 2006;25(4):533-7. [Medline].

  11. Tonbul M, Adas M, Keris I. Combined fibular and tarsal agenesis in a case of lower extremity hemimelia. J Foot Ankle Surg. Jul-Aug 2007;46(4):278-82. [Medline].

  12. Rodriguez-Ramirez A, Thacker MM, Becerra LC, Riddle EC, Mackenzie WG. Limb length discrepancy and congenital limb anomalies in fibular hemimelia. J Pediatr Orthop B. May 21 2010;[Medline].

  13. Manner HM, Radler C, Ganger R, Grill F. Knee deformity in congenital longitudinal deficiencies of the lower extremity. Clin Orthop Relat Res. Jul 2006;448:185-92. [Medline].

  14. Grogan DP, Holt GR, Ogden JA. Talocalcaneal coalition in patients who have fibular hemimelia or proximal femoral focal deficiency. A comparison of the radiographic and pathological findings. J Bone Joint Surg Am. Sep 1994;76(9):1363-70. [Medline].

  15. Stanitski DF, Stanitski CL. Fibular Hemimelia: A new classification system. J Pediatr Orthop. 2003;23:30-34.

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  18. El-Sayed MM, Correll J, Pohlig K. Limb sparing reconstructive surgery and Ilizarov lengthening in fibular hemimelia of Achterman-Kalamchi type II patients. J Pediatr Orthop B. Jan 2010;19(1):55-60. [Medline].

  19. Birch JG, Walsh SJ, Small JM. Syme amputation for the treatment of fibular deficiency. An evaluation of long-term physical and psychological functional status. J Bone Joint Surg Am. Nov 1999;81(11):1511-8. [Medline].

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Type 1B fibular hemimelia in a 3-year-old boy. The fibula is short relative to the tibia, and the tibia is shorter on the affected side. Note that the tibia is also mildly bowed. Image courtesy of Dennis P. Grogan, MD.
Fibular hemimelia in the same patient as in the image above. By the age of 5 years, the limb-length discrepancy is progressive and significant. Image courtesy of Dennis P. Grogan, MD.
Type 2 fibular hemimelia (complete absence) in a 1-year-old girl. Note that the foot is in a significant valgus position. Image courtesy of Dennis P. Grogan, MD.
Fibular hemimelia. A ball-and-socket ankle joint is a common finding in patients with fibular hemimelia. In and of itself, this is usually not problematic, but it is commonly associated with limb-length discrepancy and tarsal coalition. Image courtesy of Dennis P. Grogan, MD.
Type 2 fibular hemimelia (complete absence) in a 4-month-old girl. Note the skin dimple in the midtibial area and the 2-ray foot. Image courtesy of Dennis P. Grogan, MD.
Fibular hemimelia. The radiographic appearance of a 4-month-old girl. The fibula is absent, and the proximal tibial ossification center is absent. Two metatarsals are associated with 3 phalanges, 2 of which are fused to form only 2 toes. Image courtesy of Dennis P. Grogan, MD.
Type 1A fibular hemimelia in an 8-year-old boy. Significant valgus hindfoot is due to the shortened fibula. Image courtesy of Dennis P. Grogan, MD.
Type 2 fibular hemimelia and a significant anterior bow to the tibia in a 9-month-old boy. Image courtesy of Dennis P. Grogan, MD.
Fibular hemimelia in the same patient as in the image above. Because the tibial bowing caused prosthetic fitting problems, corrective osteotomy was performed. Image courtesy of Dennis P. Grogan, MD.
Type 1B fibular hemimelia in an 8-year-old boy. The limb-length discrepancy is 6 cm. The patient is undergoing tibial lengthening with a unilateral external fixation device. Image courtesy of Dennis P. Grogan, MD.
Fibular hemimelia. A 10-year-old girl is undergoing lengthening of her tibia with an Ilizarov device. The device incorporates her foot to maintain the position of the foot during lengthening with a lift. This device can be adjusted as lengthening proceeds and as the discrepancy decreases. Image courtesy of Dennis P. Grogan, MD.
Fibular hemimelia. This specimen was removed at the time of Syme amputation in a patient with fibular hemimelia and significant limb-length discrepancy, prior to prosthetic fitting. Note the separate ossification centers for the talus and calcaneus, but no joint space is evident. Image courtesy of and copyright held by Grogan DP, Holt GR, Ogden JA. Talocalcaneal coalition in patients who have fibular hemimelia or proximal femoral focal deficiency: a comparison of the radiographic and pathological findings. J Bone Joint Surg Am 1994;Sep 76(9):1363-70.
Fibular hemimelia. Clinical photograph of the specimen shown in the image above. Note that the ossification centers are actually part of 1 solid cartilaginous anlage. The 2 separate ossification centers fuse during adolescence, and only then is the tarsal coalition radiographically evident. Image courtesy of and copyright held by Grogan DP, Holt GR, Ogden JA. Talocalcaneal coalition in patients who have fibular hemimelia or proximal femoral focal deficiency: a comparison of the radiographic and pathological findings. J Bone Joint Surg Am 1994;Sep 76(9):1363-70.
 
 
 
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