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Congenital Fibular Deficiency: A Review of Thirty Years’ Experience at One Institution and a Proposed Classification System Based on Clinical Deformity
John G. Birch, MD, FRCS(C)1; Todd L. Lincoln, MD2; Philip W. Mack, MD3; Craig M. Birch, BSc1
1 Texas Scottish Rite Hospital for Children, 2222 Welborn Street, Dallas, TX 75219. E-mail address for J.G. Birch: john.birch@tsrh.org
2 Kaiser Permanente Medical Group, 280 West MacArthur Boulevard, Oakland, CA 94611
3 Shriners Hospital for Children-Springfield, 516 Carew Street, Springfield, MA 01104
View Disclosures and Other Information
Disclosure: The authors did not receive any outside funding or grants in support of their research for or preparation of this work. One or more of the authors, or a member of his or her immediate family, received, in any one year, payments or other benefits in excess of $10,000 or a commitment or agreement to provide such benefits from a commercial entity (Orthofix).

Investigation performed at the Texas Scottish Rite Hospital for Children, Dallas, Texas

Copyright © 2011 by The Journal of Bone and Joint Surgery, Inc.
J Bone Joint Surg Am, 2011 Jun 15;93(12):1144-1151. doi: 10.2106/JBJS.J.00683
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Abstract

Background: 

Congenital longitudinal deficiency of the fibula is the most common lower extremity congenital deficiency, with a broad spectrum of severity and subsequent reconstructive treatment. Published classification schemes do not accurately predict reconstructive treatment currently in practice.

Methods: 

We reviewed all medical records of patients with a dominant deformity of congenital fibular deficiency who were managed at our institution between 1971 and 2005. We assessed the impact of limb-length inequality, foot deformity, bilateral extremity involvement, and extent of fibular preservation on the treatment of the limb deficiency.

Results: 

One hundred and four patients (including twenty-two with bilateral congenital fibular deficiency) with 126 affected extremities had adequate radiographs to be included in the study. Femoral shortening was noted in seventy (85.4%) of eighty-two patients with unilateral limb involvement. Limb-length discrepancy prior to any treatment remained proportional in forty-seven (82.5%) of fifty-seven patients during an average duration of follow-up of ten years and ten months (range, two years to fifteen years and six months). Limb salvage with foot preservation was deemed feasible in thirty-eight (97.4%) of thirty-nine five-rayed feet, thirty (81.1%) of thirty-seven four-rayed feet, twenty (48.8%) of forty-one three-rayed feet, and one of nine feet having fewer than three rays. Twenty-two (41.5%) of fifty-three limbs with an absent or vestigial fibula were not treated with amputation. Of the twenty-two patients with bilateral fibular deficiency, twelve (54.5%) had preservation of both feet, three (13.6%) had unilateral amputation, and seven (31.8%) had bilateral amputation.

Conclusions: 

We propose a simplified classification for congenital fibular deficiency based on the clinical status of the foot and the magnitude of limb shortening as a percentage of the contralateral limb on radiographs. This classification may be effectively applied in infancy to allow the physician and family to anticipate the extent of deformity at maturity and to estimate the amount of treatment required to reconstruct this limb deformity. This system more accurately predicted the management of patients with fibular deficiency who were managed at our institution over the past three decades.

Level of Evidence: 

Therapeutic Level IV. See Instructions to Authors for a complete description of levels of evidence.

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    These activities have been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint sponsorship of the American Academy of Orthopaedic Surgeons and The Journal of Bone and Joint Surgery, Inc. The American Academy of Orthopaedic Surgeons is accredited by the ACCME to provide continuing medical education for physicians.
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    John Birch
    Posted on October 26, 2011
    Response to Dr. Hootnick
    Texas Scottish Rite Hospital for Children

    Dr. Hootnick, Thank you very much for your interest in our humble publication and very thought-provoking insights. I was delighted for you to say that 'Mr. Lloyd-Roberts would be pleased', since as you know better than I, he was an icon within our specialty, and an elegant man beyond. In addition, it was your article that planted the seed of interest in me as a trainee (sorry if it's fallen on unfertile ground!) in this fascinating, variable congenital limb deficiency. I confess that our approach and purpose in this review was much more mundane than your elegant work regarding the developmental vascular aspects of what we morphologically refer to as 'congenital fibular deficiency'. Since so many of those features are 'lateral', it is a simplistic extension to think of the ray deficiencies as 'lateral' as well. With the possible exception of the truly vexatious occurrence of equinovarus foot deformity in some cases, one need only look at the tendon insertions to recognize the correctness of your observations. With respect to the 15-20% segmental length increase by mechanical lengthening, I must admit that I have attributed that barrier in my own experience as being primarily musculotendinous in nature, but who could deny the possibility that the inadequate arterial supply results in the more clinically obvious skeletal muscle reticience? Again, thank you for your interest, intriguing comments, and kind compliments, they are truly appreciated.

    David R. Hootnick
    Posted on October 12, 2011
    An adequate arterial supply is essential for a successful outcome
    Departments of Anatomy & Cell Biology, Pediatrics, and Orthopedic Surgery; Upstate Medical University, State University of New York, Syracuse

    Birch et al have elaborated a comprehensive current methodology for management of the “fibular deficient” limb (congenital short limb, CSL) based on the clinical status of the foot and magnitude of limb shortening as a percentage of the contralateral “normal” limb on radiographs(1). Mr. George Lloyd-Roberts would be pleased that the authors have adopted our methodology of prediction of the relative difference in growth between the two limbs first proposed at The Hospital for Sick Children in London(2). In our paper we attributed the original understanding of a consistent relative leg length difference to Mr. Peter Ring(3) who described patients with unilateral congenital short femur; as in Ring’s study, the authors have omitted patients with the more severe femoral deficiencies. The authors reiterated in table one the as yet unproven allegation that the missing metatarsals observed in this condition are lateral in position. We have demonstrated evidence that the deficient metatarsals associated with CSL were not lateral, but rather midline in position(4); previous anatomic studies we reviewed provided clear anatomic evidence that the midline metatarsals are the deficient structures. Dissection of a limb with a reduced number of metatarsals also revealed both radiographic and pathologic evidence that the missing metatarsals were midline(5); the anatomy of that limb with congenital shortening and an equinovarus foot deformity, dissected following a below knee amputation, suggested that the teratogenic event occurred near the mid ventral line of the foot and was consistent with a vascular etiology. The authors have noted the paradoxical coexistence, in approximately 10% of the affected limbs examined, of an ipsilateral clubfoot deformity with fibula reduction; these conditions are biomechanically incompatible. Caskey and Lester(6) had observed an even higher 16% concordance in their series. The coexistence of such allegedly independent deformities suggests the possibility of a common etiological mechanism(7). Our studies have revealed that embryologic arterial maldevelopment is evident in the fibular deficient limb, in clubfoot, and when both conditions occur in the same limb (patient #3)(8). The authors have opined that lengthening of 15-20% of the limb lengths is maximal without having acknowledged that arterial dysgenesis is a consistent component of the CSL, although embryonic arterial dysgenesis may bear major responsibility for the notorious difficulty inherent in skeletal lengthening in CSL. Chomiak et al.(9) have elegantly demonstrated that arterial deficiency in the congenitally short limb with PFFD, a severe variety of the congenital short femur, studied via computerized tomographic angiography, revealed substantial reduction in length and diameter of the external iliac femoral and deep femoral arteries in a proportional relationship to the more severe proximal femoral skeletal deformities; we have demonstrated preservation of the more distal portion of the embryonic ischiatic artery in the lower limb (patient #1)8. The embryologically primitive ischiatic (axis) artery appears frequently in more severely affected limbs. Acknowledgement of the anomalous congenitally reduced, absent or primitive arteries that coexist in CSL should allow for more enlightened management of this condition. The proposal that all severe varieties of CSL are amenable to surgical skeletal lengthening is simply untenable, given the consistent, concurrent arterial abnormalities. Rational management of the short limb and clubfoot(10) conditions demands appreciation of the associated arterial anomalies.The authors are to be commended for a practical guide to the management of the congenital shortened limb. It is imperative to be aware that, in the surgical management of CSL, an adequate arterial supply is essential for a successful outcome. REFERENCES:(1) Birch JG, Lincoln TL, Mack PW, Birch CM. Congenital fibular deficiency: A review of 30 years experience at one institution and a proposed classification system based on clinical deformity. J Bone Joint Surg AM. 2011; 93: 1144-51.(2). 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. A preliminary report – The Hospital for Sick Children, London. 1977; 59-B: 267-271.(3) Ring PA. Congenital short femur. J Bone Joint Surg. 1959; 41-B: 73-79.(4) Hootnick DR, Levinsohn EM, Packard DS, Jr. Midline metatarsal dysplasia associated with absent fibula. Clinical Ortho. 1980; 150: 203-206.(5) Hootnick DR, Packard DS, Jr., Levinsohn EM, Lebowitz MR, and Lubicky JP. The anatomy of a congenitally short limb with clubfoot and ectrodactyly. Clinical Teratology. 1984; 29: 155-164. (6) Caskey PM, Lester EL. Association of fibular hemimelia and clubfoot. J Pediatr Orthop. 2002; 22: 522-525. (7) Hootnick DR, Dobbs M, Crider RJ. Are talipes equinovarus (TEV) and congenital fibular dysplasia different manifestations of aberrant vasculogenesis? J Child Orthop 2009; 3: 67.(8) Hootnick DR, Levinsohn EM, Randall PA, Packard DS, Jr. Vascular dysgenesis associated with skeletal dysplasia of the lower limb. J Bone Joint Surg. 1980; 62-A: 1123-1129.(9) Chomiak J, Horak M, Masek M, Frydrychova M, Dungl P. Computed tomographic angiography in proximal femoral focal deficiency. J Bone Joint Surg AM. 2009; 91A: 1954-1964.(10) Hootnick DR, Packard DS, Jr., Levinsohn EM, Berkowitz SA, Aronsson DD, Crider RJ. Ischemic necrosis following clubfoot surgery: the purple hallux sign. J Pediatr Orthop, Part B. 2004; 13(5): 315-322.

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