Postaxial Hypoplasia of Lower Extremity (Fibular Hemimelia)

Postaxial Hypoplasia of Lower Extremity (Fibular Hemimelia)

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Fibular hemimelia was described initially as a condition that is related to aplasia or hypoplasia of the fibula. [1] As is evidenced by its historic name, the fibular abnormality is a primary feature of this condition and may range from a minimal shortening of the fibula to its complete absence. Coventry and Johnson, and later Achterman and Kalamchi, provided early classification systems. [2, 3] These are primarily based on and concerned with treatment of the accompanying limb-length discrepancy.

Fibular hemimelia cannot be characterized fully by any single anatomic feature. It encompasses a constellation of lower-extremity features, which should be evaluated and treated individually when appropriate. Now that more insights have been gained into the constellation of related abnormalities stemming from the embryologic limb bud, the term postaxial hypoplasia of the lower extremity may describe the syndrome more accurately. [4] This term also helps remind the clinician to look for other subtle abnormalities and not to focus solely on the obvious fibular deficiency.

Historically, the recommended treatment for postaxial hypoplasia of the lower extremity (fibular hemimelia) was amputation, but only as a last resort. However, Herring et al showed that patients who undergo amputation after several failed attempts at salvage are at high risk for emotional problems. [5, 6]  Therefore, determining which patients fare better with immediate amputation is important. Generally, these are patients with a nonfunctional foot or a limb-length discrepancy of more than 20-30%. [7]

Subsequently, the need arose to establish criteria for the indications for amputation. The first recommendations used a projected limb-length discrepancy of 3 in. (~7.5 cm) at maturity as an appropriate cutoff. However, as limb-lengthening techniques have improved, this length criterion has increased, and limb salvage is regarded more often as a feasible option. Other features of postaxial hypoplasia have also been investigated, and treatments have been defined.

A number of causes have been suggested for fibular hemimelia. One theory postulates that interference with limb-bud development plays an important role. Widespread pathology throughout the limb has been noted, even in mild cases of fibular deficiency. [8] During the fetal period, the fibular field of the limb bud controls development of the proximal femur, explaining the frequent association of femoral abnormalities.

Other associated abnormalities of the knee, leg, ankle, and foot also are related to the fibular field of the lower limb bud. [9, 10, 11] Therefore, postaxial hypoplasia of the lower extremity is a descriptive term that encompasses this constellation of abnormalities.

Postaxial hypoplasia of the lower extremity is rare and has variable expression, ranging from mild deformity (which the patient may never notice) to severe deformity.

Because postaxial hypoplasia of the lower extremity 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. [12, 13, 14]

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

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].

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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].

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. 2011 May. 35 (5):755-9. [Medline].

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].

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].

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 Sep. 19 (5):436-40. [Medline].

Reyes BA, Birch JG, Hootnick DR, Cherkashin AM, Samchukov ML. The Nature of Foot Ray Deficiency in Congenital Fibular Deficiency. J Pediatr Orthop. 2017 Jul/Aug. 37 (5):332-337. [Medline].

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].

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].

Stanitski DF, Stanitski CL. Fibular hemimelia: a new classification system. J Pediatr Orthop. 2003 Jan-Feb. 23 (1):30-4. [Medline].

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

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].

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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].

Birch JG, Walsh SJ, Small JM, Morton A, Koch KD, Smith C, et al. 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].

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Mishima K, Kitoh H, Iwata K, Matsushita M, Nishida Y, Hattori T, et al. Clinical Results and Complications of Lower Limb Lengthening for Fibular Hemimelia: A Report of Eight Cases. Medicine (Baltimore). 2016 May. 95 (21):e3787. [Medline]. [Full Text].

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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.

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, Pediatric Orthopaedic Society of North America

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. for: Orthodox, Orthopediatrics.

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.

Thomas M DeBerardino, MD Orthopedic Surgeon, The San Antonio Orthopaedic Group; Professor of Orthopedic Surgery, Baylor College of Medicine as Co-Director, Combined Baylor College of Medicine-The San Antonio Orthopaedic Group, Texas Sports Medicine Fellowship; Medical Director, Burkhart Research Institute for Orthopaedics (BRIO) of the San Antonio Orthopaedic Group; Consulting Surgeon, Sports Medicine, Arthroscopy and Reconstruction of the Knee, Hip and Shoulder

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, Arthroscopy Association of North America, Herodicus Society, International Society of Arthroscopy, Knee Surgery and Orthopaedic Sports Medicine

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

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.

Postaxial Hypoplasia of Lower Extremity (Fibular Hemimelia)

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