Fibular Hemimelia Research Articles

Proximal Femoral Focal Deficiency/Congenital Femoral Deficiency: Evaluation and Management.

Proximal focal femoral deficiency is a congenital transverse deficiency in which the femur is globally smaller with a typical proximal deformity at the hip that may include distal involvement of knees, leg, and feet. Congenital femoral deficiency (CFD) describes a broader spectrum of longitudinal deficiency inclusive of proximal focal femoral deficiency. CFD may also include lateral distal femoral hypoplasia, knee cruciate ligament deficiency, rotational instability, patellar dislocation, fibular hemimelia, ray absence, and contralateral limb involvement. Treatment intends to maximize function by limb equalization and deformity correction ranging from nonsurgical management using prosthetics to amputation and may include lengthening, shortening, and complex limb reconstruction. Management decisions depend on overall severity and the patient and family's preferences and priorities. Owing to its complexity, CFD is best treated by clinicians with considerable deformity treatment experience who can help guide decision making and embark on a treatment course that will maximize the functional outcome.

Fibular hemimelia.

Fibular hemimelia is defined as a partial or complete absence of the fibula. Alongside fibular deformities, there is a wide spectrum of anomalies, foot deformities, and absent rays. A literature review showed only a handful of cases of prenatal diagnosis of fibular hemimelia. It is a rare disorder that might be isolated or associated with visceral anomalies.

Surgical treatment of patients with peroneal hemimelia

Forty two cases of surgical crus lengthening in children with congenital fibular hemimelia were analysed. It was determined that relapse of foot and segment axis deformity, abnormal development of tibia distal epiphysis were frequently noted in case of preservation of fibular-cartilagi- nous band. Transcutaneous tenotomy of fibular band provided the best conditions for crus development during the process of growth. However the tenotomy prevented the recurrence of segment axis deformity only in one third of all cases, the correct position of foot was most often instable. Distraction osteosynthesis should be combined with open reposition of fibular fibrous- cartilaginous bend that improved the conditions for ankle formation and prevented the recurrence of crus and tibial deformity during the growth process. Ultrasonography is the compulsory method for the determination of surgical intervention tactics.

Can a Checklist Protocol Improve Limb Lengthening?

Background: In recent years, hexapodal external fixators and telescopic nails have improved the accuracy of limb lengthening and correction of deformities. However, careful follow-up in the postoperative period is extremely important; complications are still frequent and directly interfere with patient's outcome. Aims and Objectives: We have developed a follow-up limb lengthening reconstruction checklist. Materials and Methods: Like a flight checklist, professionals systematically record relevant data in every postoperative visit, to improve clinical management during distraction and consolidating phases. Results: LLR-Checklist was used in 53 consecutive patients, from 2006 to 2020. Average age was 11 (2-45) years. A pattern was found in the 18 patients with fibular hemimelia in relation to the use of antibiotics. Superficial infection was common. 21% of patients had delayed ossification in the regenerate. 25% of patients had nerve injuries; 9,4% of them had nerve decompression, all had total recovery. Contractures and pain improved with physical therapy. Conclusion: This checklist can improve quality in the treatment and is a valuable teaching tool for young practitioners.

BMPR-IB gene disruption causes severe limb deformities in pigs.

In an attempt to generate g.A746G substitution in the BMPR-IB gene, we unexpectedly obtained BMPR-IB homozygous knockout piglets (BMPR-IB-/-) and heterogeneous knockout piglets with one copy of the A746G mutation (BMPR-IB-/746G) via CRISPR/Cas9 editing. Polymerase chain reaction (PCR) and sequencing revealed complex genomic rearrangements in the target region. All BMPR-IB-disrupted piglets showed an inability to stand and walk normally. Both BMPR-IB-/- and BMPR-IB-/746G piglets exhibited severe skeletal dysplasia characterized by distorted and truncated forearms (ulna, radius) and disordered carpal, metacarpal, and phalangeal bones in the forelimbs. The piglets displayed more severe deformities in the hindlimbs by visual inspection, including fibular hemimelia, enlarged tarsal bone, and disordered toe joint bones. Limb deformities were more profound in BMPR-IB-/- piglets than in the BMPR-IB-/746G piglets. Proteomic analysis identified 139 differentially expressed proteins (DEPs) in the hindlimb fibula of BMPR-IB-/746G piglets compared to the wild-type (WT) controls. Most DEPs are involved in skeletal or embryonic development and/or the TGF-β pathway and tumor progression. Gene Ontology (GO) and protein domain enrichment analysis suggested alterations in these processes. Of the top 50 DEPs, a large proportion, e.g., C1QA, MYO1H, SRSF1, P3H1, GJA1, TCOF1, RBM10, SPP2, MMP13, and PHAX, were significantly associated with skeletal development. Our study provides novel findings on the role of BMPR-IB in mammalian limb development.

The SUPERankle procedure in the treatment of foot and ankle deformities in fibular hemimelia

Objective: To review indications for limb amputation or reconstruction using the SUPERankle procedure in patients diagnosed with Paley type 3 or 4 fibular hemimelia; To evaluate the correction of deformities needed to achieve a stable plantigrade foot, review variations of the original technique and their applicability, and describe challenges encountered in their execution. Methods: Qualitative, retrospective, descriptive study of 4 patients who underwent the SUPERankle procedure between 2019 and 2020 for treatment of foot and ankle deformities in fibular hemimelia. Pre- and postoperative clinical and radiographic evaluations were performed to identify objective evidence of the correction of foot and ankle deformities. The operative techniques employed are described. Results: The included patients met anatomical and psychosocial criteria for reconstruction, as established in the literature. Clinical correction of foot and ankle deformities was achieved, but on radiographic evaluation, there was no statistical difference; this was likely due to the small number of patients, given the rarity of fibular hemimelia. Conclusion: The procedure is reproducible, but requires a knowledgeable, well-trained surgical team. Correction of foot and ankle deformities can be achieved. The choice between amputation or reconstruction should be the result of an informed decision by Family members, supported by a multidisciplinary team. Level of Evidence IV; Qualitative Study; Case Series.

Fibular hemimelia treated by autologous osteoblasts: a case report

Fibular hemimelia treated by autologous osteoblasts: a case report

VP16.06: Prenatal diagnosis of FATCO syndrome: report of three cases – ultrasound findings, differential diagnoses and treatment

FATCO syndrome – fibular aplasia, tibial campomelia and oligosyndactyly – is a group of bone malformations compromising lower limbs. It is a rare association with few cases described in the international literature, whose diagnosis is made especially postnatally. The objective is to describe a series of cases of FATCO syndrome with prenatal suspicion detected between 2019-2021 at DIAGNUS prenatal diagnosis centre, Córdoba, Argentina. Case 1: gestational age 21 + 3. Insulin dependent diabetes. Ultrasound: marked shortening and curving of the left tibia with preserved ossification; lack of visualisation of the ipsilateral fibula, left foot rotation, probable syndactyly versus oligodactyly, gender: male. Currently pregnant. Case 2: gestational age 28 + 6. Ultrasound: right fibular hemimelia, shortening and bowing of the ipsilateral tibia, absence of ossification nuclei of some metatarsal bones, gender: female. Findings confirmed postnatally, undergoing orthopedic treatment. Case 3: gestational age 25 + 4. Ultrasound: shortening of both lower limbs, predominantly left, bilateral fibular aplasia, left femoro-tibial campomelia, oligoectrodactyly in both feet, gender: male. Postnatal confirmed findings. Also in orthopedic treatment. None of the cases had other detectable structural abnormalities. In conclusion, FATCO syndrome should be considered when peroneal hemimelia is seen prenatally. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Lengthening Reconstruction Surgery for Fibular Hemimelia: A Review.

Fibular hemimelia (FH) presents with foot and ankle deformity and leg length discrepancy. Many historic reconstructions have resulted in poor outcomes. This report reviews modern classification and reconstruction methods. The Paley SHORDT procedure (SHortening Osteotomy Realignment Distal Tibia) is designed to correct dynamic valgus deformity. The Paley SUPERankle procedure (Systematic Utilitarian Procedure for Extremity Reconstruction) is designed to correct fixed equino-valgus foot deformity. The leg length discrepancy in FH is successfully treated with serial lengthening and epiphysiodesis. Implantable intramedullary lengthening devices have led to all internal lengthenings. Recent advancements in techniques and implants in extramedullary implantable limb lengthening (EMILL) have allowed internal lengthenings in younger and smaller patients, who would traditionally require external fixation. These new internal techniques with lengthenings of up to 5 cm can be repeated more easily and frequently than external fixation, reducing the need to achieve larger single-stage lengthenings (e.g., 8 cm). Modern reconstruction methods with lengthening are able to achieve limb length equalization with a plantigrade-stable foot, resulting in excellent functional result comparable or better than a Syme’s amputation with prosthetic fitting.

Embryology of the lower limb demonstrates that congenital absent fibula is a radiologic misnomer.

The congenitally shortened limb (CSL) with fibular deficiency or absence has historically been graded by plain radiography, while associated cartilaginous and arterial soft tissue anomalies have been comparatively neglected. Consistent pathological evidence of remnant cartilaginous bodies in place of the fibula presupposes earlier existence of a preformed cartilaginous template of the fibula. In complete fibular radiographic absences, often associated with midline metatarsal deficiencies, the two usual nutrient arteries to the fibula fail to form, as they normally would have, around the (16-18 mm stage) sixth embryonic week. The histopathology of fallow persisting fibular anlagen, in association with missing arteries and retained primitive arteries, suggests the anlage is a dystrophic, but otherwise normally prefigured, cartilaginous scaffold of the fibula. Thus, the widely employed term absent fibula, which has been grounded in plain radiography, is a misnomer. Additionally, since the metatarsals missing in congenitally shortened limb are midline, the related term, fibular hemimelia, is similarly inaccurate. A new taxonomy, based on embryological principles rather than radiographic appearance alone, will promote limb dystrophism as a more accurate term combining arrested embryonic vascular development and congenitally shortened limb of the lower extremity.

Clinical outcomes in pediatric tibial lengthening and deformity correction: a comparison of the Taylor Spatial Frame with the Orthex Hexapod System.

PurposeComparison of two hexapod frame systems in paediatric tibial deformity correction; the Taylor Spatial Frame (TSF) and Orthex Hexapod System.MethodsPaediatric patients with congenital and acquired tibial deformities treated with either TSF (between 2014 and 2016) or Orthex (between 2017 and 2019) frames were included in a retrospective comparative study. Outcome measures were healing index, pin infection rate, regenerate quality and density, software residual rate, deformity correction accuracy, strut exchanges and quality of life (QoL).ResultsThe TSF group had 17 patients (18 frames) and the Orthex group had 21 patients (25 frames). The most common indications for tibial deformity correction were fibular hemimelia (14) and septic or traumatic growth arrest (8). The median time in frame was 230 days (TSF) versus 203 days (Orthex) (p= 0.06). The mean lengthening achieved was 54 mm (TSF) and 51 mm (Orthex) (p = 0.41). The healing index was 41 days/cm (TSF) versus 43 days/cm (Orthex) (p = 0.70). Pin site infections occurred more in the TSF cohort (40%) than in the Orthex cohort (18%) (p < 0.001). The regenerate in the Orthex group showed higher density at three months (p = 0.029) and was more homogenous (p = 0.023) at six months after frame application. Strut exchanges were less frequent with the Orthex system (p < 0.0001). QoL measures were similar in both cohorts (p = 0.92).ConclusionsThis is the first study to compare two hexapod designs in paediatric orthopaedics. The Orthex system showed superiority in regenerate quality and a significant reduction in pin site infection rates. Both systems delivered predictable and accurate limb deformity correction.Level of evidenceIII

Limb Lengthening for Congenital Deficiencies Using External Fixation Combined With Flexible Intramedullary Nailing: A Multicenter Study.

Hydroxyapatite (HA) coated flexible intramedullary nailing (FIN) stimulates osteogenic activity. The role of HA-coated intramedullary nails remains unclear in normal bone lengthening. The goal of this study was to quantify the influence of FIN on the External Fixation Index (EFI) in patients with congenital lower limb discrepancy. Patients with femoral deficiency and fibular hemimelia underwent lengthening by the combined technique of external fixation with titanium (Ti) FIN or HA coated FIN and returned for follow-up at least 12 months after frame removal. Seventy patients (mean age of 12.6 y) were included: 19 monofocal femoral lengthenings, 35 tibial monofocal lengthenings, 16 tibial bifocal lengthenings. The mean EFI's for those treated with and without HA-coated nails were not significantly different. The Conover posthoc analysis did not reveal a significant influence of the type of FIN on EFI in any subgroup. However, 2-way analysis of variance revealed simultaneous effects of nail types and age on the EFI in tibial bifocal lengthening.Significant positive correlation between the ratio "nail diameter/medullary shaft diameter" and EFI in tibial bifocal non-HA-coated FIN lengthening, and a significant positive correlation between age and EFI for femoral non-HA-coated FIN lengthening, tibial monofocal and bifocal HA-coated FIN lengthening were revealed.There were 4 cases of fracture at lengthening site required unscheduled surgery. In the non-HA-coated group, there was a statistically significant negative correlation between nail diameter and fracture occurrence at the lengthening site after frame removal. A ratio of <0.15 likely does not ensure required mechanical stability and support. Both Ti-nail and HA-coated nail lengthening provide good and excellent outcomes for femoral and tibial monosegmental lengthening procedures and ensure reduced EFI. In congenital disorders which were not associated with abnormal bone, there are no differences with regard to EFI using HA-coated or non-HA-coated FIN. The ratio of "elastic Ti-nail diameter/medullary canal diameter at narrowest site" <0.15 seems to be associated with higher risk of fracture at the lengthening site after frame removal.

"It Occupied Her Entire Childhood": Looking Back on Limb-Lengthening.

Approximately 1 in 1000 children are born with congenital lower limb deficiencies related to underlying congenital vascular insufficiency.1 Their parents face a difficult choice: early amputation and prosthesis-fitting or a series of painful, invasive lengthening procedures, which, despite some advances, still carry a risk of a poor functional outcome for a significant minority of patients.1–3 In this Family Partnerships essay, a young woman born with congenital short limb, her mother, her current orthopedic surgeon, and a pediatric ethicist reflect on their family’s choice and its consequences for her health and wellbeing over the past 30 years. Lindsay is the younger of our two daughters. I had been advised to stop taking antiepileptic medications during my pregnancy, but this led to my having more frequent and severe seizures. Sometimes I fell but remained conscious. Although 3 doctors have told us that Lindsay’s disability was unrelated, I still feel guilty that I might have caused it. Regardless of what got us into this position with our little girl, we were always going to do everything on heaven and earth for her. The day after Lindsay was born in 1987, the pediatrician came to my room with the longest face I have seen a doctor have before. … Address correspondence to Amy Caruso Brown, MD, MSc, MSCS, Center for Bioethics and Humanities, SUNY Upstate Medical University, 618 Irving Ave, Syracuse, NY 13210. E-mail: brownamy{at}upstate.edu

A re-examination of the patterns of foot and ankle deformities in congenital limb deficiencies

Purpose: The aim of this study is to evaluate foot deformities and anomalies present in congenital limb deficiencies (CLDs). We sought to define the relationship between the type of limb deficiency and foot posture, patterns of ray deficiencies, and association between tarsal coalition (TC) and ball-and-socket ankle. Materials and Methods: This is a single institution, retrospective radiograph, and medical record review of patients with CLD, comprising congenital femoral deficiency (CFD), tibial hemimelia (TH), and fibular hemimelia (FH) from January 2000 to January 2019. Data extracted included patient demographics, predicted leg length discrepancy, associated deformities and anomalies, and specifics of the foot deformity. Surgical procedures were recorded. Data were reported using descriptive statistics. Fisher's exact test analyses of contingency tables were used for the exploratory components of this study. Results: Eighty-one patients with 97 limb deficiencies were identified (16 – CFD, 18 – TH, and 63 – FH). Isolated CFD was not associated with foot and ankle deformity and TH was associated with an equinocavovarus foot in all limbs. In FH, an equinocavovarus deformity was present in 15/63 (24%) feet, most requiring foot surgery. Of 48 patients with FH and absent rays, two lacked lateral rays, whereas the remainder missed one or more intermediate rays. TC was unrelated to the presence of ball-and-socket ankle. Conclusions: This study demonstrates heterogeneity in the spectrum of foot and ankle deformity in CLD, particularly in FH. Recognition of this phenotypic variation is critical for surgeons to formulate a comprehensive treatment plan and ensure optimal functional outcomes. Level of Evidence: IV.

Fibular Aplasia, Tibial Campomelia, Oligo-Syndactyly Syndrome and Probable Femur Fibula Ulna Syndrome- Case Reports

One in two thousand neonates suffer from congenital limb deficiencies. Fibular hemimelia, a birth defect, has an estimated incidence of 5.7 to 20 cases per 1 million births. Fibular Aplasia, Tibial Campomelia and Oligo-Syndactyly (FATCO) syndrome is one such which is a triad of fibular hemimelia (aplasia/hypoplasia of fibula), tibial campomelia (bending of tibial bone) and oligo syndactyly. It is a syndrome of unknown genetic basis and inheritance. Very few cases on this condition have been reported so far. This article reports two cases on this condition, wherein the babies had considerable variability of limb malformations. The first is a newborn with FATCO, and the second is a two-month-old male infant with FATCO associated with right focal femoral deficiency. In view of paucity of the cases, there is a need to report every case which may help in creating awareness and a standardised management approach.

Наш опыт оперативного лечения детей с аплазией малоберцовой кости

Introduction Fibular hemimelia is a rare congenital malformation of lower limbs with associated deformities of the knee and ankle joints. There is no consensus among the authors regarding the choice of treatment method, appropriate timing of surgery, strategy and postoperative rehabilitation. Objective To explore clinical manifestations of the deformities and review outcomes of pediatric surgical treatment of fibular hemimelia. Material and methods Surgical treatment was performed for 11 children with fibular hemimelia at the Department of Pediatric Orthopedics, RSSPMCTO RUz between 2014 and 2019. Clinical and instrumentation studies were produced for all patients. Results Outcomes of surgical treatment were evaluated using functional characteristics with 7 rated as good and 4 as fair. Conclusion External fixation offers an effective treatment option in the pediatric surgical management of fibular hemimelia.

Physical performance of children with longitudinal fibular deficiency (fibular hemimelia)

Purpose Longitudinal fibular deficiency (LFD) is the most common congenital long bone deficiency. This study aimed to objectively assess the physical performance of children and adolescents with LFD compared with unaffected peers, and to examine trends over age for subgroups of the LFD population. Methods Differences between children with LFD and unaffected peers were examined with hand-held dynamometry for lower-limb muscle strength, Six-Minute Walk Test, Timed up and down stairs test, Star Excursion Balance Test, and Standing long jump. Results Thirty-nine children with LFD and 284 unaffected peers participated. Children with LFD performed at a lower level than their unaffected peers, on all measures of physical performance (mean 2.1 z-scores lower, all p < 0.01), except in long jump (p = 0.27). When comparing the performance of children with LFD to their unaffected peers across four age groups, there was a significant between-groups difference on all strength measures, and on the Six-Minute Walk distance, between children with and without LFD. These differences were smallest in young children (3–6 years) and largest in the older children (15–18 years) (all p < 0.01). Children with no lengthening surgery performed better on the Six-Minute Walk Test, covering a greater distance during the test, than those who had surgery (mean difference 83 metres, p < 0.01). There were no significant differences between children who had or had not undergone an amputation. Conclusions Children with LFD performed at a significantly lower level than unaffected peers on all measures of physical performance other than jumping. The largest differences were in older children. This paper provides baseline functional data for future interventions in LFD. Level of Evidence Cross-sectional study. Implications for Rehabilitation This paper provides the first baseline functional data using validated objective measures on a consecutive cohort of children and adolescents with longitudinal fibular deficiency. Children with LFD performed significantly worse than their unaffected peers on all measures of physical performance other than jumping, with children falling further behind their peers as they age. Children who undergo an amputation typically have the most severe anatomical presentation and yet perform at an equivalent functional level. This paper identifies multiple modifiable impairments that represent potential opportunities for rehabilitation professionals to target with conservative treatment options to improve functional performance.

The case of prenatal ultrasound diagnosis of fibular hemimelia, type I associated with oligodactyly of the foot in the second trimester of gestation

A case of prenatal ultrasound diagnosis of fibular hemimelia, type I associated with oligodactyly of the foot at 22 weeks of gestation is presented. Ultrasound examination at 22 weeks of gestation revealed hypoplasia of the left fibula and the foot oligodactyly. After prenatal counseling, the patient opted for termination of pregnancy. During external examination of the abortus asymmetry of the lower extremities due to shortening of the left lower leg and oligodactyly of the left foot were noted, those confirmed prenatal ultrasound data.

Centralization of the foot in tibial and fibular hemimelia: preliminary results

Purpose To assess the midterm results of acute centralization of the foot in cases of tibial and fibular hemimelia associated with severe foot deformity and ankle dislocation. Patients and methods We treated 11 limbs in 10 patients: eight patients with tibial hemimelia and two patients with fibular hemimelia. All cases were associated with severe foot deformity (equinovarus in tibial hemimelia and equinovalgus in fibular hemimelia), dislocated ankle, and tight tendoachilis. There were seven boys and three girls, with a mean age of 2.35 years. In tibial hemimelia, two limbs were type Ia, four limbs were type II, and three limbs were type IV according to Jones classification. In fibular hemimelia, all cases were type II according to Achterman and Kalamachi classification. The mean preoperative limb-length discrepancy was 5.4 cm (range, 4.5–7 cm). We had acute centralization of the foot by means of calcaneofibular or tibiocalcaneal arthrodesis in cases of tibial or fibular hemimelia, respectively, and talectomy, fibular shortening, and tibiofibular synostosis were done. Transcalcaneal fibular Kirschner wire was inserted to maintain the foot position. First-stage lengthening by Ilizarov fixator was done, with 5-cm gain of length in seven cases, and second-stage lengthening was done in two cases. Results The mean follow-up period was 50 months. We achieved foot correction and centralization of the foot, which was stable in all cases, except one with failed tibiofibular synostosis in Jones type IV. No neurovascular complications occurred. Wound dehiscence occurred in five limbs, unstable knee was seen in two cases, recurrent equinus of more than 20° was seen in three cases, and two cases had poor regenerate potential. All patients and families were satisfied with the foot procedure and were not satisfied with knee centralization procedure owing to knee instability. Conclusion Acute centralization of the severely deformed foot in cases of tibial and fibular hemimelia by calcaneofibular or tibiocalcaneal arthrodesis, respectively, can correct severe foot deformity, achieve plantigrade foot, and preserve the patient but was associated with many secondary procedures. Level of evidence Level IV.

The outcome of the use of Ilizarov technique in the management of congenital fibular hemimelia: Review of cases admitted to Erbil Teaching Hospital in Kurdistan region of Iraq

Background and objective: Patients affected by fibular hemimelia primarily presented clinically as foot deformities and limb length discrepancies. Surgical restoration of normal limb alignment and length has been reached by using Ilizarov technique. This study aimed to determine the outcome of using Ilizarov procedure in the management of lower limb discrepancy cases in Erbil. Methods: This study is a review of fibular hemimelia cases managed at the orthopedic department of Erbil Teaching Hospital between November 2014 and June 2018. Fibular hemimelia patients complaining from lower limb shortening of 3–11 cm were included in this study. All patients were examined pre and post application of Ilizarov procedure to determine the range of lower limb motion by using the lower extremity functional scale. Ilizarov operative technique was used for the correction of deformities and restoration of normal limb length and alignment. Results: Eight fibular hemimelia patients, including three males, were enrolled in the study with a mean (±SD) age of 7.37 ± 4.13 years (range from 3 to 16 years). They had a mean limb shortening of 6.06 ± 2.36 cm. A wide range of residual deformities and congenital anomalies was reported among fibular hemimelia cases. A number of residual deformities and complications were associated with Ilizarov technique affecting the knee joint, proximal tibia, and ankle joint. Improvement in the lower extremity functional scale from quite a bit and moderate difficulty to a little bit of difficulty (P <0.001) between the two means of pre and postoperative lower extremity functional scale was demonstrated. Conclusion: Ilizarov procedure is effective in improving the lower extremity function in fibular hemimelia despite the associated complications and leg length inequality.