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Fibular Hemimelia Treatment & Management

  • Author: Michael C Holmstrom, MD; Chief Editor: Thomas M DeBerardino, MD  more...
 
Updated: Nov 24, 2014
 

Medical Therapy

No specific medical therapies can correct the underlying abnormalities for postaxial hypoplasia of the lower extremity (fibular hemimelia). For mild deformities, however, observation or nonoperative management may be useful.

As with limb-length discrepancies resulting from other causes, no treatment may be necessary or the use of heel lifts may be adequate, particularly for discrepancies smaller than 2 cm. However, although the percentage of shortening generally remains constant at 10-20% relative to the contralateral side, the absolute discrepancy may progress with growth and must be followed until skeletal maturity.[18]

Similarly, observation may be adequate for hip varus, genu valgum, tibial kyphosis, and patellar instability. Although an absent anterior cruciate ligament (ACL) with a positive Lachman test result is observed frequently, clinical signs of instability are rare, and nonoperative management is appropriate.[19] In mild cases, ankle valgus may be managed with a University of California-Berkeley (UCB) orthosis, but as with limb-length discrepancy, the patient must be monitored throughout growth because the fibular portion of the mortise may be progressively compromised.

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Surgical Therapy

Several issues must be addressed before any procedure is performed for postaxial hypoplasia of the lower extremity (fibular hemimelia). The most important part of preoperative planning is thorough evaluation of the entire limb to identify all of the associated abnormalities that may be present as a part of fibular hemimelia. The mechanical and anatomic axes should be determined and corrected when possible.

The ultimate goal is to achieve symmetrical, stable, and well-aligned joints with the minimal number of surgical procedures. Accordingly, there is no single set of operations that should always be performed; instead, individual procedures should be planned that address the specific abnormalities in each patient. (See the images below.)

Type IB fibular hemimelia in 8-year-old boy. Limb- Type IB fibular hemimelia in 8-year-old boy. Limb-length discrepancy is 6 cm. Patient is undergoing tibial lengthening with unilateral external fixation device. Image courtesy of Dennis P Grogan, MD.
Fibular hemimelia in 10-year-old girl. Patient is Fibular hemimelia in 10-year-old girl. Patient is undergoing lengthening of tibia with Ilizarov device, which incorporates foot so as to maintain foot position during lengthening with lift. Device can be adjusted as lengthening proceeds and discrepancy decreases. Image courtesy of Dennis P Grogan, MD.
Fibular hemimelia. Specimen was removed at time of Fibular hemimelia. Specimen was removed at time of Syme amputation in patient with fibular hemimelia and significant limb-length discrepancy, prior to prosthetic fitting. Note 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 specimen Fibular hemimelia. Clinical photograph of specimen shown in preceding image. Note that ossification centers are actually part of single solid cartilaginous anlage; 2 separate ossification centers fuse during adolescence, and only then is 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.

Finally, realistic expectations of the timing, the duration of recovery, and the ultimate outcome must be communicated to the patient and to his or her family.[20] An overall plan is important, and should be discussed in detail with the patient and his or her family.

In patients with a nonfunctional foot, Birch et al recommend amputation, regardless of limb-length discrepancy, unless the upper extremities also are nonfunctional.[21] In patients with a functional foot, the surgical recommendations generally fall into one of the following three groups:

  • Patients with a discrepancy smaller than 10% - There is little disagreement that these patients can benefit from lengthening procedures or contralateral epiphysiodesis
  • Patients with a discrepancy larger than 30% - Amputation is recommended for these patients; again, there is little disagreement on management
  • Patients with a discrepancy of 10-30% (the most challenging group) - At maturity, an average lower-extremity length is 80-110 cm, and a 10% discrepancy for such a limb is 8-11 cm; lengthening more than 10 cm in a limb with associated knee, ankle, and foot abnormalities is difficult; hopes for a normal limb notwithstanding, parents must be helped to understand the problems associated with lengthening in severe deficiencies; lengthening with a contralateral epiphysiodesis may be considered as an alternative to multiple lengthening procedures

If amputation is determined to be the most appropriate procedure for an individual, the Syme amputation is generally used. In the past, transtibial amputation was performed more commonly because of cosmetic concerns for a bulky ankle. However, subsequent observations showed that the ankle does not enlarge with growth after the Syme amputation and that the procedure allows weight bearing on the residual limb.

Boyd described a modification to the Syme amputation in which the talus is removed but the retained calcaneus is fused to the tibia to help prevent posterior migration of the heel pad.[22, 23] In this modification, the heel pad grows with the patient. However, the procedure is associated with more wound problems, nonunion, and malpositioning of the calcaneus. Thus, the unmodified Syme amputation is generally recommended.[24]

When a Syme amputation is performed in children, trimming the condyles is not necessary. As opposed to adults, children have small condyles that do not grow to a normal size.

For patients with hip dysplasia, proximal femoral focal deficiency (PFFD), or coxa vara, further details on the various treatment procedures are available elsewhere (see Developmental Dysplasia of the Hip, Proximal Femoral Focal Deficiency, and Congenital Coxa Vara).

Several issues should be addressed. Any necessary operations for acetabular redirection are generally performed before femoral lengthening. Moreover, in the setting of combined coxa vara and limb-length discrepancy, lengthening via callotasis at the subtrochanteric level is not recommended, because of the bending moment and the small cross-sectional area in that portion of the femur. Instead, a more standard valgus intertrochanteric osteotomy should be performed, with any necessary lengthening performed separately at the distal femur.

Genu valgum associated with postaxial hypoplasia of the lower extremity is progressive and can adversely affect lower-limb alignment. It can be treated in several ways. Acute correction can be achieved by performing a distal femur corticotomy during a femoral lengthening procedure or an osteotomy during correction of anteromedial tibial bowing. In patients with a hypoplastic lateral femoral condyle, temporary medial epiphyseal stapling has been recommended because osteotomy has a high recurrence rate unless it is performed near maturity.

Ankle abnormalities can range from complete absence of the fibula to ankle valgus or a ball-and-socket ankle.[25] For the more severe deformities, a Gruca reconstruction has been described.[26] This procedure creates a lateral malleolus by using an oblique sliding osteotomy of the distal tibia. In milder cases of fibular hypoplasia and possible valgus, a supramalleolar osteotomy is traditionally used. As a less invasive alternative, a medial malleolar screw epiphysiodesis may provide good results, as Stevens described.[27]

Procedures in the foot include resection of talar coalitions or fusions and addressing any problems with shoe fit that might arise for any deformity. Specific details of these procedures are discussed in other articles.

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Postoperative Details

Postoperative care for postaxial hypoplasia of the lower extremity (fibular hemimelia) depends on the specific procedures performed.

Because the abnormalities associated with this condition tend to be relative as opposed to absolute, the patient should continue to be monitored through maturity to ensure that no additional interventions are necessary.

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Complications

Postaxial hypoplasia of the lower extremity (fibular hemimelia) is a syndrome that involves structures throughout a large anatomic area, and complications of treatment are not infrequent. In addition to the standard surgical complications (eg, infection, bleeding), several complications specific to this disorder have been described.

In the hip, the Hilgenreiner epiphyseal angle must be corrected to less than 38° from the horizontal; repeat valgus intertrochanteric osteotomies may be needed.[28] Limb lengthening has a range of complications, from the frequent superficial infections along the pin tract to more significant problems related to fracture, tightening of soft tissues, stiffness, and recurrent deformity.

Stapling is an effective method for correcting angular deformities, but staple displacement or rebound growth may occur. In some situations, however, stapling may be preferable to an osteotomy because of the increased morbidity associated with osteotomy and of the possibility of nonunion and recurrence after an osteotomy.

Finally, amputation may ultimately be necessary despite limb-sparing treatment, a possibility that must be discussed with the parents from the beginning.

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Outcome and Prognosis

Because postaxial hypoplasia of the lower extremity (fibular hemimelia) represents such a wide range of abnormalities with varying degrees of involvement, no simple statement can be made regarding the patient's prognosis. Judiciously chosen, well-timed procedures specifically tailored to the individual patient provide the best prospects for a well-aligned, functional limb of adequate length.[29, 30, 31]

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Future and Controversies

One controversy regarding postaxial hypoplasia of the lower extremity (fibular hemimelia) is its name. Historically, the syndrome has been called fibular aplasia or hypoplasia, and this name has been defended largely on the basis of historical precedent.

Now that more insights have been gained into the constellation of related abnormalities stemming from the embryologic limb bud, it appears that the term postaxial hypoplasia of the lower extremity may describe the syndrome more accurately. This term also helps remind the clinician to look for other subtle abnormalities and not to focus solely on the obvious fibular deficiency.

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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, Arthroscopy Association of North America, Pediatric Orthopaedic Society of North America, American Medical Association, 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: Pediatric Orthopaedic Society of North America, Alpha Omega Alpha, American Academy of Orthopaedic Surgeons, American Orthopaedic Association

Disclosure: Received royalty from Orthofix Inc for independent contractor; Received royalty from Orthopediatrics, Inc for independent contractor; Received honoraria from Orthopediatrics, Inc for speaking and teaching.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

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, American Orthopaedic Society for Sports Medicine

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Arthrex, Inc.; Ivy Sports Medicine; MTF; Aesculap; The Foundry, Cotera; ABMT<br/>Received research grant from: Histogenics; Cotera; Arthrex.

Additional Contributors

Dennis P Grogan, MD Clinical Professor (Retired), Department of Orthopedic Surgery, University of South Florida College of Medicine; Orthopedic Surgeon, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa

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

Disclosure: Nothing to disclose.

References
  1. Bohne WH, Root L. Hypoplasia of the fibula. Clin Orthop Relat Res. 1977 Jun. 107-12. [Medline].

  2. Coventry M, Johnson E. Congenital absence of the fibula. J Bone Joint Surg Am. 1952. 34:941-55.

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

  4. Stevens PM, Arms D. Postaxial hypoplasia of the lower extremity. J Pediatr Orthop. 2000 Mar-Apr. 20(2):166-72. [Medline].

  5. Herring JA, Barnhill B, Gaffney C. Syme amputation. An evaluation of the physical and psychological function in young patients. J Bone Joint Surg Am. 1986 Apr. 68(4):573-8. [Medline].

  6. Herring JA. Symes amputation for fibular hemimelia: a second look in the Ilizarov era. Instr Course Lect. 1992. 41:435-6. [Medline].

  7. Choi IH, Kumar SJ, Bowen JR. Amputation or limb-lengthening for partial or total absence of the fibula. J Bone Joint Surg Am. 1990 Oct. 72(9):1391-9. [Medline].

  8. Baek GH, Kim JK, Chung MS, Lee SK. Terminal hemimelia of the lower extremity: absent lateral ray and a normal fibula. Int Orthop. 2008 Apr. 32(2):263-7. [Medline].

  9. Lewin SO, Opitz JM. Fibular a/hypoplasia: review and documentation of the fibular developmental field. Am J Med Genet Suppl. 1986. 2:215-38. [Medline].

  10. Monteagudo A, Dong R, Timor-Tritsch IE. Fetal fibular hemimelia: case report and review of the literature. J Ultrasound Med. 2006 Apr. 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. 2007 Jul-Aug. 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. 2010 May 21. [Medline].

  13. Manner HM, Radler C, Ganger R, Grill F. Knee deformity in congenital longitudinal deficiencies of the lower extremity. Clin Orthop Relat Res. 2006 Jul. 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. 1994 Sep. 76(9):1363-70. [Medline].

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

  16. Yoong P, Mansour R. Internal derangement of the knee in fibular hemimelia: radiographic and MRI findings. Knee. 2014 Jun. 21(3):749-56. [Medline].

  17. Radler C, Myers AK, Hunter RJ, Arrabal PP, Herzenberg JE. Prenatal diagnosis of congenital femoral deficiency and fibular hemimelia. Prenat Diagn. 2014 Oct. 34(10):940-5. [Medline].

  18. Hootnick D, Boyd NA, Fixsen JA, Lloyd-Roberts GC. The natural history and management of congenital short tibia with dysplasia or absence of the fibula. J Bone Joint Surg Br. 1977 Aug. 59(3):267-71. [Medline].

  19. Manner HM, Radler C, Ganger R, Grill F. Dysplasia of the cruciate ligaments: radiographic assessment and classification. J Bone Joint Surg Am. 2006 Jan. 88(1):130-7. [Medline].

  20. 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. 2010 Jan. 19(1):55-60. [Medline].

  21. 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. 1999 Nov. 81(11):1511-8. [Medline].

  22. Boyd HB. Amputation of the foot with calcaneotibial arthrodesis. J Bone Joint Surg Am. 1939. 21:997.

  23. Eilert RE, Jayakumar SS. Boyd and Syme ankle amputations in children. J Bone Joint Surg Am. 1976 Dec. 58(8):1138-41. [Medline].

  24. Boakes JL, Stevens PM, Moseley RF. Treatment of genu valgus deformity in congenital absence of the fibula. J Pediatr Orthop. 1991 Nov-Dec. 11(6):721-4. [Medline].

  25. Wiltse LL. Valgus deformity of the ankle: a sequel to acquired or congenital abnormalities of the fibula. J Bone Joint Surg Am. 1972 Apr. 54(3):595-606. [Medline].

  26. Thomas IH, Williams PF. The Gruca operation for congenital absence of the fibula. J Bone Joint Surg Br. 1987 Aug. 69(4):587-92. [Medline].

  27. Stevens PM, Belle RM. Screw epiphysiodesis for ankle valgus. J Pediatr Orthop. 1997 Jan-Feb. 17(1):9-12. [Medline].

  28. Carroll K, Coleman S, Stevens PM. Coxa vara: surgical outcomes of valgus osteotomies. J Pediatr Orthop. 1997 Mar-Apr. 17(2):220-4. [Medline].

  29. Szoke G, Mackenzie WG, Domos G, Berki S, Kiss S, Bowen JR. Possible mistakes in prediction of bone maturation in fibular hemimelia by Moseley chart. Int Orthop. 2010 Mar 20. [Medline].

  30. Shabtai L, Specht SC, Standard SC, Herzenberg JE. Internal lengthening device for congenital femoral deficiency and fibular hemimelia. Clin Orthop Relat Res. 2014 Dec. 472(12):3860-8. [Medline].

  31. Das S, Ganesh GS, Pradhan S, Mohanty RN. Outcome of eight-plate hemiepiphysiodesis on genu valgum and height correction in bilateral fibular hemimelia. J Pediatr Orthop B. 2014 Jan. 23(1):67-72. [Medline].

  32. Birch JG, Lincoln TL, Mack PW. Functional classification of fibular deficiency. In: Herring JA, Birch JG, eds. The Child with a Limb Deficiency. Rosemont, IL: American Academy of Orthopaedic Surgeons. 1998: 161.

  33. Morrissy RT, Giavedoni BJ, Coultery-O'Berry C. The limb-deficient child. In: Pediatric Orthopedics. 5th ed. 2001: 1227-33.

  34. Pappas AM, Hanawalt BJ, Anderson M. Congenital defects of the fibula. Orthop Clin North Am. 1972 Mar. 3(1):187-99. [Medline].

 
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Type IB fibular hemimelia in 3-year-old boy. Fibula is short relative to tibia, and tibia is shorter on affected side. Note that tibia is also mildly bowed. Image courtesy of Dennis P Grogan, MD.
Type IB fibular hemimelia in same patient as in preceding image. By age 5 years, limb-length discrepancy is progressive and significant. Image courtesy of Dennis P Grogan, MD.
Type II fibular hemimelia (complete absence) in 1-year-old girl. Note that foot is in significant valgus position. Image courtesy of Dennis P Grogan, MD.
Fibular hemimelia. Ball-and-socket ankle joint is common finding in fibular hemimelia. In and of itself, it is usually not problematic, but it is commonly associated with limb-length discrepancy and tarsal coalition. Image courtesy of Dennis P Grogan, MD.
Type II fibular hemimelia (complete absence) in 4-month-old girl. Note skin dimple in midtibial area and 2-ray foot. Image courtesy of Dennis P Grogan, MD.
Fibular hemimelia in 4-month-old girl. Fibula is absent, as is proximal tibial ossification center. 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 IA fibular hemimelia in 8-year-old boy. Significant valgus hindfoot is due to shortened fibula. Image courtesy of Dennis P Grogan, MD.
Type II fibular hemimelia and significant anterior bowing of tibia in 9-month-old boy. Image courtesy of Dennis P Grogan, MD.
Fibular hemimelia in same patient as in preceding image. Because tibial bowing caused prosthetic fitting problems, corrective osteotomy was performed. Image courtesy of Dennis P Grogan, MD.
Type IB fibular hemimelia in 8-year-old boy. Limb-length discrepancy is 6 cm. Patient is undergoing tibial lengthening with unilateral external fixation device. Image courtesy of Dennis P Grogan, MD.
Fibular hemimelia in 10-year-old girl. Patient is undergoing lengthening of tibia with Ilizarov device, which incorporates foot so as to maintain foot position during lengthening with lift. Device can be adjusted as lengthening proceeds and discrepancy decreases. Image courtesy of Dennis P Grogan, MD.
Fibular hemimelia. Specimen was removed at time of Syme amputation in patient with fibular hemimelia and significant limb-length discrepancy, prior to prosthetic fitting. Note 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 specimen shown in preceding image. Note that ossification centers are actually part of single solid cartilaginous anlage; 2 separate ossification centers fuse during adolescence, and only then is 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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