congenital femoral deficiency

The aim of this study is to evaluate the course of the treatment and clinical and functional outcomes of femur lengthening in adolescents with congenital disorders by the application of different surgical methods. This retrospective study comprised 35 patients (39 procedures). A total of 11 patients underwent femur lengthening with the use of the intramedullary magnetic nail (IMN) Precise 2 (NuVasive, San Diego, CA, USA), 7 patients (11 procedures) with the use of the monolateral external distractor Modular Rail System (MRS) (Smith and Nephew, Memphis, TN, USA), and 17 with the use of the computer-assisted external fixator Taylor Spatial Frame (TSF) (Smith and Nephew, Memphis, TN, USA)...

BACKGROUND: Femoral lengthening is a procedure of great importance in the treatment of congenital and acquired limb deficiencies. Technological advances have led to the latest designs of fully implantable motorized intramedullary lengthening nails. The use of these nails has increased over the last few years. AIM: To review and critically appraise the literature comparing the outcome of femoral lengthening in children using intramedullary motorized lengthening nails to external fixation...

Although radiographs are generally performed in the neonatal period to evaluate for causes of respiratory distress or to evaluate line placement, close attention to the osseous structures can provide important clues to an underlying diagnosis. Although segmentation anomalies can be random, they are frequently associated with more complex entities such as VACTERL association. A butterfly vertebral body can hint at a possible diagnosis of Alagille syndrome even before jaundice develops in an infant with a murmur...

It is of great importance to investigate any potential detrimental effect on bone health in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy. This study demonstrated normal bone health in well-controlled patients. Additionally, glucocorticoid dose may play an important role in the mineral density of femoral neck region. PURPOSE: To compare regional bone mineral densities (BMDs) and bone statuses of young adults with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase enzyme (21OHase) deficiency with a control group...

Protein-C deficiency causes a thrombophilic environment in circulation. Although venous thromboembolism is the most common presentation, arterial events are rare. A 45 year-old woman with protein-C deficiency presented with multiple thromboembolic events including bilateral renal infarct and inferior ST-elevation myocardial infarction 3-days after coronary angiography via femoral approach which were normal coronary arteries. Computed tomographic angiography and transesophageal echocardioraphy displayed multiple thrombi sources including left atrium, left subclavian artery, sinus valsalva and descending aorta...

Congenital femoral deficiency (CFD) is a rare disorder with several limb anomalies including limb shortening and knee cruciate ligament dysplasia.Limb lengthening is usually performed to correct lower limb discrepancy. However, complications, such as knee subluxation/dislocation, can occur during this treatment.Here, we explore CFD knee abnormalities and knee dislocation during limb elongation, discussing when and whether knee ligament reconstruction prior to the lengthening would be necessary to reduce the risk of knee dislocation...

Rotationplasty is a reconstructive option for severe congenital femoral deficiency (CFD). The senior author (D.P.) developed five new rotationplasty techniques for use in CFD based on the Paley classification, including the Paley-Brown (fusion femur to pelvis), Paley (fusion femur to femoral head), Paley-Winkelman (insertion tibial condyle to acetabulum), PaleySUPERhip-Van Nes (hip osteotomy with knee fusion) and PaleySling-Van Nes (hip reconstruction with knee fusion revision) rotationplasty techniques. The purpose of this study is to retrospectively evaluate the complications, radiographic outcomes and need for secondary surgery in 19 rotationplasty cases performed by the senior author (D...

Congenital femoral deficiency (CFD) Paley type 1b is characterized by severe bony deformity of the upper femur, extra-articular contractures of the hip, and, delayed ossification of the femoral neck and/or subtrochanteric region. The Systematic Utilitarian Procedure for Extremity Reconstruction of the hip (SUPERhip) procedure for the correction of CFD deformities was developed in 1997. Initially, a non-fixed angle device (rush rod) was used for fixation. Late complications of persistent delayed ossification and recurrent varus deformity occurred...

Tibial hemimelia is a rare congenital deficiency with a wide spectrum of pathology and deformity. This paper aims to give a comprehensive review of tibial hemimelia, with a concise summary of the history, pathology, and clinical findings of tibial hemimelia, while providing treatment recommendations and a review of the current literature. Classifications and surgical treatments are discussed, including amputation, limb reconstruction, and lengthening. Type-specific treatments are also discussed, including staged distraction correction of joint contractures of knee and ankle, Weber patelloplasty, fibular centralization, knee and ankle arthrodesis, implantable articulated distractors, and the role of femoral shortening...

BACKGROUND: 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. METHODS: 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...

The etiology and treatment of complex mandibular defects in children differ markedly from those of adults, although treatment with free bone flaps is historical in both groups. While adult outcomes and complication rates are well known, few pediatric data exist, especially for patients with congenital deficiencies. This study reports early and late outcomes from a cohort of young, primarily syndromic patients undergoing microvascular mandibular reconstruction. Methods: This is a retrospective case series of patients who underwent microvascular mandibular reconstruction between 1995 and 2016...

PURPOSE: The aim of this study is to assess the pelvis's morphology and spatial orientation of the acetabulum, and their relation to the severity of Congenital Femoral Deficiency (CFD) using 3D imaging. Defining these pathologies is crucial for adequate surgical correction. METHODS: The shape and structure of the acetabulum and pelvis were evaluated in 14 children with unilateral CFD via 3D computed tomography (CT) scans, and then analysed with geometric morphometrics (Procrustes ANOVA)...

BACKGROUND: Congenital femoral deficiency (CFD) is a rare condition that affects the morphology of the hip and surrounding soft tissues. Bony deformity and distorted muscular anatomy are well known, but no studies have described the relationship of the femoral neurovascular (NV) bundle to surgically relevant anatomic landmarks. The authors compared the location of the femoral NV bundle on the affected side in patients with CFD with the unaffected side. The authors hypothesized that the bundle on the pathologic side would be in an abnormal position relative to the unaffected side...

PURPOSE OF THE STUDY Although the congenital short femur is morphologically well characterized, changes at the molecular level have not been described in the literature so far. The absence of such information, along with the unknown aetiology of the defect, was the motivation for analysing angiogenesis and osteogenesis in the pseudoarthrosis (false joint) tissue in PFFD patients compared to physiological bone. The authors expected differences in gene expression, particularly in the quantity of expressed genes...

PURPOSE: Langenskiöld described a reconstructive soft-tissue procedure for irreducible lateral congenital patellar dislocations. Paley further detailed the technique in the surgical management of congenital femoral deficiency. The aim of this study was to evaluate the outcomes of patients with congenital, chronic and recurrent patellar dislocations treated with the modified Langenskiöld procedure. METHODS: This is a retrospective case series. Between 2011 and 2018, 18 knees in 13 patients (mean age 15...

Meromelia refers to the partial absence of at least 1 limb and is also referred to as "terminal transverse hemimelia." It can occur in either isolation or with other congenital malformations. There are very few publications in the literature that report meromelia cases accompanied by other congenital anomalies. Proximal focal femoral deficiency is another rare congenital skeletal abnormality and is characterized by the underdevelopment of the proximal part of the femur and shortening of the entire lower extremity...

BACKGROUND: Patients with congenital fibular deficiency often develop genu valgum secondary to lateral femoral condylar hypoplasia. Guided growth strategies are often performed to correct limb alignment when adequate skeletal growth remains. METHODS: A retrospective review of patients with postaxial hypoplasia of the lower extremity managed with an amputation strategy and who had a guided growth procedure for coronal plane limb malalignment during their course of treatment was performed...

Pycnodysostosis is a rare inherited disorder of autosomal recessive trait causing cathepsin K deficiency, leading to failure of osteoclastic activity. Brittle and sclerotic bones which are prone for frequent fractures is the characteristic feature of this congenital disorder. Despite good healing potential there are few issues in the management of fractures in pycnodysostosis patients. In this article we report the challenges faced in managing a fracture of the femoral shaft in a 12 year old girl with pycnodysostosis...

BACKGROUND: Proximal femoral focal deficiency is an extremely rare congenital anomaly with an incidence of 1.1-2.0 in 100,000 live births. It is a dysplastic phenomenon with predilections for the proximal two-thirds of the femur leading to limb length discrepancies. We report two cases of proximal femoral focal deficiency, which is a rare entity. CASE PRESENTATIONS: Case 1 A 4.5-month-old baby Annang tribe girl was referred in April 2019 to our Radiology Department, University of Uyo Teaching Hospital, Nigeria for lower limb radiographs...

Proximal focal femoral deficiency (PFFD) is a rare congenital skeletal abnormality characterised by the partial absence of the proximal femoral segment with shortening of the entire lower extremity. It typically presents as a shortened thigh, which is flexed, externally rotated and abducted. Some other skeletal anomalies, especially fibular hemimelia, usually accompany the disorder. The diagnosis of PFFD is made in early childhood and based mainly on conventional radiography. However, the radiographic appearance of the disease evolves as the child grows...