fibular hemimelia

PURPOSE: Fibular hemimelia has denoted a spectrum of postaxial longitudinal deficiency with fibular aplasia/hypoplasia; the term "terminal hemimelia" is reserved for patients with postaxial longitudinal deficiency having a normal fibula. We aimed to delineate the characteristics of terminal hemimelia. METHODS: In total, 30 patients with postaxial longitudinal deficiency who had a normal or hypoplastic fibula and visited our institution between 1992 and 2022 were reviewed...

Fibular hemimelia is a complex longitudinal malformation of the lower extremity with partial or complete deficiency of the fibula resulting in dorso-fibular dislocation of the hindfoot. Typically associated are talocalcaneal coalition, absence of rays of the foot, diaphyseal tibial deformity of valgus-procurvatum type and longitudinal growth deficiency. We have addressed the deformity of the distal tibial epiphysis surgically by a metaphyseal osteotomy to bend through the physis inspired by the Pemberton's acetabular osteotomy in 7 to 21-month-old children...

BACKGROUND: Fibular Hemimelia (FH) is the most common longitudinal limb deficiency. Significant limb length discrepancy (LLD) will necessitate long treatment times and multiple settings to compensate for LLD when associated with femoral shortening. This study evaluates the outcome of simultaneous femoral and tibial lengthening using the Ilizarov frame. METHODS: This retrospective study included the cases of 12 children with severe limb length discrepancy caused by combined FH and ipsilateral femoral shortening from May 2015 to August 2022...

OBJECTIVES: Complications are common in the treatment of lower extremity congenital or acquired deformities by Ilizarov method. The results to be obtained vary in specific patient groups. In this study, deformities who developed before the age of 16 were compared with those developed after this age regardless of the type of aetiology, in terms of results obtained, treatment durations and complications encountered. METHODS: 53 bone deformities with an average of 9...

BACKGROUND: Fibular hemimelia (FH) represents the most common deficiency of the long bones and is associated with multiple deformities. Reconstructive treatment with external fixators in FH restores normal lower extremity alignment and length with plantigrade feet for a balanced and effective gait. The aim of this study is to evaluate the outcomes of lower limb lengthening and simultaneous tri-plane deformity correction with a computer-assisted hexagonal external fixator in children with FH...

CASE: This case demonstrates the attempted utilization of an osteochondral allograft for the prevention of bony overgrowth in a patient with fibular hemimelia and previous transtibial amputation with failure of Teflon capping. Additionally, we describe a novel technique to provide additional padding and increase the width of the residual limb using a dermal allograft. CONCLUSIONS: Bony overgrowth after pediatric amputations is common and often necessitates revision procedures secondary to infection, ulceration, pain, and discomfort with prosthesis use...

Introduction Foot oligodactyly is usually associated with fibular insufficiency or cleft foot syndrome. A foot with a reduced number of rays may occasionally have an isolated dysplasia. Methods We reviewed the clinical notes and X-rays of six children with oligodactyly, having a normal development of the tibia and fibula. Clinical evaluation recorded the plantigrade or deviated foot, appropriate shoe wear, and aesthetic presentation of barefoot children. Radiological examination revealed missing or hypoplastic bones in the foot, the presence of other deformities, and leg length discrepancy (LLD) of the affected limb...

The likelihood of patellar instability and consequently, risk of patellar dislocations is higher in those with anatomical abnormalities. Fibular hemimelia is a congenital disorder resulting in partial or full absence of the fibula, often with absence of the lateral and cruciate ligaments, although this patient group rarely undergoes ligament reconstruction. There is potential for adverse outcomes, in the longer term, including, possible increased risk of patellar dislocation and pain in the knee and hip. We aim to investigate the potential risk of spontaneous, unprovoked patellar dislocation among patients with fibular hemimelia, through a review of medical records and radiological investigations...

Tibial deficiency (also known as tibial hemimelia) is a rare condition with variable presentation. A 2-month-old patient presented with absent bilateral tibias. When the patient was 1 year, a novel reconstructive surgery was done. A bilateral fibular resection with pedicled calcaneus transfer was done, allowing for transfer of the calcaneus along with the overlying glabrous skin and soft tissues to the end of the femur. The patient was permitted to weight-bear after the 4-week postoperative follow-up. At the six-month follow-up, the patient was able to pull to stand and walk with assistance without any reports of pain...

BACKGROUND: Surgery to achieve long bone lengthening and deformity correction in skeletally immature patients is traditionally performed through external fixators. The incidence of infection during treatment is high. Hydrotherapy is highly beneficial during external fixation management, but the infection rates may impact its utilization. The objective of this paper is to document the incidence and duration of infection in patients who participated in a full hydrotherapy program when performed under medical supervision and in accordance with strict follow-up protocols...

Congenital limb deformities, with a birth frequency of 0.55 per 1,000, are extremely rare prenatal defects that can present with either partial or complete lack of a limb or a specific portion of a limb. Amelia is a sporadic anomaly that is defined by the complete absence of a limb's skeletal elements, whereas hypomelia is defined by the incomplete development of a limb's skeletal elements. We present the case of a neonate with gross facial deformities in the form of the absence of both external ears and a saddle-shaped nose...

Axin1 is a key regulator of canonical Wnt signaling pathway. Roles of Axin1 in skeletal development and in disease occurrence have not been fully defined. Here, we report that Axin1 is essential for lower limb development. Specific deletion of Axin1 in limb mesenchymal cells leads to fibular hemimelia (FH)-like phenotype, associated with tarsal coalition. Further studies demonstrate that FH disease is associated with additional defects in Axin1 knockout (KO) mice, including decreased osteoclast formation and defects in angiogenesis...

The PRECICE® intramedullary rod (NuVasive, San Diego, CA) utilizes multiple telescopic components to magnetically drive limb lengthening. These devices are routinely explanted after desired growth correction is met. To the author's knowledge, this is the first description of an osteotomy assisted extraction of a disassociated tibial magnetic lengthening rod. A 17-year-old girl with fibular hemimelia and resolved left tibial length discrepancy after successful surgical lengthening underwent a complex implant removal approximately seven years after regenerate consolidation...

There is a clear clinical need for efficient physiotherapy and rehabilitation programs during and after bone lengthening and reconstruction for gaining the optimal effect and also prevention or treatment of lengthening side effects. Pin tract infection is the most prevalent side effect during lengthening which could be prevented and treated initially via proper wound care. Muscle contractures are typically a consequence of the generated tension on the distracted muscle. It can be managed by physiotherapy initially and surgically in later severe stages...

Background: Anterior Cruciate Ligament Aplasia (ACLA) is a rare condition which can sometimes remain asymptomatic into adult life. Although the quoted incidence is 1.7 per 100,000 live births, it is higher due to these silent cases and can be encountered by the arthroscopy surgeon doing reconstructive procedure for the ACL. The aim of this study is to get information on clinical presentation, imaging, arthroscopy findings and management of the knee in patients with ACL aplasia through a systematic review relevant to the arthroscopy surgeon in making a decision when they encounter such a case...

RATIONALE: Evaluation of clinical and radiologic abnormalities in patients with postaxial hypoplasia of the lower extremity (PHLE) for treatment decisions represents a major challenge, which is more complicated when PHLE is associated with congenital dislocation of the patella. PATIENT CONCERNS: : Herein, we present the case of an 8-year-old female patient with evident length inequality in her left lower extremity and inability to walk. DIAGNOSES: Radiological evaluation revealed PHLE with fibular hemimelia, proximal femoral focal deficiency, tarsal coalition, and congenital patellar dislocation of the patella...

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.

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...

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...

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...