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Congenital Fibula Deficiency

Discussion in 'Pediatrics' started by Hamilrob, Jun 23, 2011.

  1. Hamilrob

    Hamilrob Welcome New Poster

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    I saw a really interesting 9 yr old boy in clinic today with Congenital Fibula Deficiency Type 1. He was referred by a Physio who had never seen a case and I had never heard of it but had time to quickly look it up before his appointment. I am not a Pediatric or even Biomechanics specialist and he just popped up as a new patient in a general clinic.

    His referral to Physio was for achilles tenonitis which he reported was improving with the exercises given but there was still some pain on palpation midway down the tendon. He has a 1cm leg length difference and the lateral malleoli on the affected leg is missing. He has a very mobile subtalar and midtarsal joint on the opposite foot but very limited ROM in the affected foot which is also in equinus. Both tibia are straight. The feet are very pronated in stance but he intoes during gait. He has bespoke ankle boots raised at the heel for the short leg but during the summer likes to wear normal trainers but understandably then suffers hip pain.

    I am going to cast him for orthotics to wear in his trainers that will also accomodate the leg length but wondered if anyone has seen this before and has any suggestions. What also fascinates me is what happens to the muscle attachments where the fibula is missing. do they just attach in the same place but on the tibia? I have found some papers which I plan to read but a lot of it seems to deal with type 2 and surgery

  2. twirly

    twirly Well-Known Member

    Last edited: Jun 24, 2011
  3. lusnanlaogh

    lusnanlaogh Active Member

    Hi Hamilrob

    I have tibial longitudinal deficiency ... I hope I can help?

    Although the young lad has a unique foot pathology ('equinus' is usual, as are missing digits), a very mild form of fibular deficiency (such as this) is very much liveable with and most definitely shouldn't need an Oscar Pistorius treatment ;) ... they only tend to amputate if the foot is non-functional. Treatment is either orthotics or/and limb lengthening.

    From what I've read and in my experience, if the bone doesn't form enough to provide a muscle attachment site, the muscle fibres either do not form or are significantly reduced in number.

    Btw, in the UK the incidence of fibular deficiency is approx 1:50 000 live births, with many cases seemingly going undetected. When it is diagnosed, yes be interested but, at the same time, it's important not to make the person feel 'unusual'.

    Just a couple of questions for you -

    Do you know who prescribes his footwear?


    Did you examine his hips and knees?
  4. Hamilrob

    Hamilrob Welcome New Poster

    Hi to you both and thank you for replying. I will read the papers you suggest but from the brief research I did yesterday it appeared that the type 2 where no fibula is present is most at risk of amputation. This young lad is very sporty but obviously concious of his footwear which is why he likes to wear normal trainers during school holidays. His shoes are made at the local hospital and have insoles with a soft valgus filler and poron medial rearfoot post for the affected foot. I think he would benefit from something more supportive but am also a bit cautious due to the limited STJ range of motion.

    His lower leg muscles are poorly defined and in hindsight I probably should have checked his hips but as he had been to the Physio previously I assumed they would have checked all the leg muscles and given him exercise if appropriate. He also sees a consultant at Great Ormond Street and Mum made no mention of any hip involvement during the consultation and she was very informative.

    Thinking about orthotics, his current footwear has a heel raise but apparantly the consultant wants the forefoot built up as well in his next pair so I was going to raise the entire orthotic however, I wonder if now if this is wise due to the equinus and problem with the achilles. Perhaps it should be done more gradually.

    Looking forward to any advice you may have.
  5. lusnanlaogh

    lusnanlaogh Active Member

    I'd agree with that. Although, it depends upon the surgeon and your country ... in the UK surgeons tend to err on the side of caution, whilst in countries such as the US there's quite a lot of, what I call, 'experimental surgury' ... meaning, that they seem to try to save the foot whatever the pathology. Sometimes there's cultural pressure to try to save the foot.

    The emphasis here, needs to be to support the foot, whilst ensuring he feels just like everyone else. It's easier at his age, but it'll become more tricky as he ages and his weight and height change; any stresses that happen to a 'normal' foot will be magnified in a foot such as his.

    You are right to be cautious! I suggest that any changes to his orthotic prescription should be done alongside his orthotist, surgeon/paediatrician and/or rehab consultant. They should have access to his x-rays ... etc.

    Mum will probably have known everything there is to know about his condition and overlooking his hips and knees would have been easily done. But, you need to know what you're working with, especially if you're thinking of changing his orthotic prescription.

    Unilateral fibular longitudinal deficiency is often described as having a 'sporadic' aetiology. But, it can be associated with Proximal Femoral Focal Deficiency (PFFD) ... admittedly, full blown PFFD isn't easy to miss, but there are degrees of it, as there are with most things. :)

    I think a chat with his consultant would be an excellent idea! :D
  6. Bug

    Bug Well-Known Member

    Absolutely. I have limited experience with this but with kids with LLD that is unlikely to be changing we generally get our local bootmaker to take the bottom of their runners and build a full sole lift inside and pop the sole back on. It makes the runner look pretty normal and they can still have the same brands as their friends. I think it is wise in anyone to correct the full shoe rather than just the heel.
  7. lusnanlaogh

    lusnanlaogh Active Member

    What a great idea for straight forward LLD!

    There are a few things that I've thought of since I lasted posted on this thread.

    1. In the UK the NHS orthotics budget is being drastically cut; much worse than podiatry, believe it or not?! So there may be an increased likelihood of pods coming across people with more complex lower limb pathologies.

    2. Some helpful papers on the condition are ~

    Anteroposterior Instability of the Knee: A sign of Congenital Limb Deficiency Torode IP and Gillespie R; Journal of Pediatric Orthopaedics 3:467-470 © 1983 Raven Press, New York

    Association of Fibular Hemimelia and Clubfoot Caskey PM, and Lester EL; Journal of Pediatric Orthopaedics 22:522-525 © 2002 Lippincott Williams & Wilkins, Inc., Philadelphia

    Clinical Examination and Investigation of the Cruciate Ligaments in Children with Fibular Hemimelia Roux MO, Carlioz H; Journal of Pediatric Orthopaedics 19:247-251 © 1999

    Fibular Hemimelia: A Preliminary Report on Management of the Severe Abnormality Gibbons PJ, Bradish CF; Journal of Pediatric Orthopaedics Part B 5:20-26 © 1996 Lippincott-Raven Publishers, Philadelphia

    Management of Fibular Hemimelia - amputation or leg lengthening Naudie D, Hamdy RC, Fassier F, Morin B, Duhaime M; Journal of Bone & Joint Surgery (Br) 1997; 79-B:58-65

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

    I'm sure there are some more recent papers?

    3. I can't emphasise enough how important it is to liaise with the child/adult's rehabilitation consultant and/or orthopod.
  8. NewsBot

    NewsBot The Admin that posts the news.

    Congenital fibular deficiency: a review of thirty years' experience at one institution and a proposed classification system based on clinical deformity.
    Birch JG, Lincoln TL, Mack PW, Birch CM.
    J Bone Joint Surg Am. 2011 Jun 15;93(12):1144-51.
  9. NewsBot

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    Outcome of limb lengthening in fibular hemimelia and a functional foot.
    Changulani M, Ali F, Mulgrew E, Day JB, Zenios M.
    J Child Orthop. 2010 Dec;4(6):519-24.
  10. NewsBot

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    Congenital Fibular Deficiency
    Reggie C. Hamdy, MD, MSc, FRCSC, Asim M. Makhdom, MD, MSc (C), Neil Saran, MD, MHSc (Clin Epi), FRCSC and John Birch, MD, FRCSC
    J Am Acad Orthop Surg April 2014 vol. 22 no. 4 246-255
  11. NewsBot

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    Prevention of recurrence of tibia and ankle deformities after bone lengthening in children with type II fibular hemimelia
    Arnold Popkov, Anna Aranovich, Dmitry Popkov
    International Orthopaedics; April 2015
  12. NewsBot

    NewsBot The Admin that posts the news.

    Functional Assessment in Tibial Hemimelia (Can We Also Save the Foot in Reconstruction?).
    Shahcheraghi GH, Javid M.
    J Pediatr Orthop. 2015 May 14
  13. NewsBot

    NewsBot The Admin that posts the news.

    Long-term effect on foot and ankle donor site following vascularized fibular graft resection in children.
    Sulaiman AR, Wan Z, Awang S, Che Ahmad A, Halim AS, Ahmad Mohd Zain R.
    J Pediatr Orthop B. 2015 Jun 5
  14. NewsBot

    NewsBot The Admin that posts the news.

    The Nature of Foot Ray Deficiency in Congenital Fibular Deficiency.
    Reyes, Bryan A. MD; Birch, John G. MD, FRS(C); Hootnick, David R. MD; Cherkashin, Alex M. MD; Samchukov, Mikhail L. MD
    Journal of Pediatric Orthopaedics: September 9, 2015
  15. NewsBot

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    Clinical Results and Complications of Lower Limb Lengthening for Fibular Hemimelia: A Report of Eight Cases.
    Mishima K et al
    Medicine (Baltimore). 2016 May;95(21):e3787.
  16. NewsBot

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    Orthopedic treatment vs. surgery for longitudinal fibular deficiency.
    Quintero-Prigent N et al
    Ann Phys Rehabil Med. 2016 Sep;59S:e12-e13. doi: 10.1016/j.rehab.2016.07.030.
  17. NewsBot

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    Classification of Cruciate Ligament Dysplasia and the Severity of Congenital Fibular Deficiency.
    Walker JL, Milbrandt TA, Iwinski HJ, Talwalkar VR.
    J Pediatr Orthop. 2016 Dec 22. doi: 10.1097/BPO.0000000000000910.
  18. NewsBot

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    Ankle valgus following non-vascularized fibular grafts in children—an outcome evaluation minimum two years after fibular harvest
    Agarwal, A., Kumar, D., Agrawal, N. et al.
    International Orthopaedics (SICOT) (2017) 41: 949. doi:10.1007/s00264-017-3403-8

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