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congenital femoral deficiency

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https://www.readbyqxmd.com/read/28990185/postaxial-limb-hypoplasia-palh-the-classification-clinical-features-and-related-developmental-biology
#1
REVIEW
Zeng Zhang, Dan Yi, Rong Xie, John L Hamilton, Qing-Lin Kang, Di Chen
Postaxial limb hypoplasia (PALH) is a group of nonhereditary diseases with congenital lower limb deficiency affecting the fibular ray, including fibular hemimelia, proximal femoral focal deficiency, and tarsal coalition. The etiology and the developmental biology of the anomaly are still not fully understood. Here, we review the previous classification systems, present the clinical features, and discuss the developmental biology of PALH.
October 9, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28746061/lengthening-with-monolateral-external-fixation-versus-magnetically-motorized-intramedullary-nail-in-congenital-femoral-deficiency
#2
Vivian L Szymczuk, Ahmed I Hammouda, Martin G Gesheff, Shawn C Standard, John E Herzenberg
BACKGROUND: Limb lengthening for congenital femoral deficiency (CFD) with or without fibular hemimelia can be performed with both external and internal devices. The purpose of this study is to compare clinical outcomes of femoral lengthening utilizing monolateral external fixation versus a magnetically motorized intramedullary nail in patients with CFD with or without fibular hemimelia. METHODS: This retrospective review included 62 patients with femoral lengthening, 32 patients had monolateral external fixation (group A), 30 patients had internal lengthening nail (group B)...
July 28, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28597058/-flexion-and-extension-osteotomy-of-the-knee
#3
T Diermeier, A B Imhoff, K Beitzel
OBJECTIVES: Flexion and extension osteotomy of the knee for symptomatic malalignment in the sagittal plane. INDICATIONS: Congenital/posttraumatic bony deficiencies in flexion/pathologic hyperextension in the knee. Additional treatment for ligament reconstruction. CONTRAINDICATIONS: Absolute: Infection, critical soft tissue situation, circulatory disorders. Relative: Osteoporosis, heavy smoker, obesity, reduced patient compliance. SURGICAL TECHNIQUE: Diagnostic arthroscopy of the knee...
August 2017: Operative Orthopädie und Traumatologie
https://www.readbyqxmd.com/read/28481811/trochanteric-entry-for-femoral-lengthening-nails-in-children-is-it-safe
#4
Ahmed I Hammouda, Julio J Jauregui, Martin G Gesheff, Shawn C Standard, John E Herzenberg
BACKGROUND: Antegrade intramedullary (IM) nailing for skeletally immature femur fractures can damage the capital femoral epiphysis blood supply, leading to avascular necrosis (AVN) of the femoral head. Reported AVN rates are 2% for piriformis entry and 1.4% for trochanteric entry. None of previous reports described IM lengthening nails for limb lengthening procedures. We have used self-lengthening telescopic nails with a proximal Herzog bend and standard trochanteric entry for femoral lengthening in children...
June 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28031510/use-of-a-magnetic-bone-nail-for-lengthening-of-the-femur-and-tibia
#5
Ozgur Karakoyun, Sami Sokucu, Mehmet Fatih Erol, Metin Kucukkaya, Yavuz Selim Kabukçuoğlu
PURPOSE: To report our experience with the PRECICE nail for limb lengthening in 23 patients. METHODS: Records of 15 female and 8 male patients aged 14 to 38 (mean, 23.6) years who underwent lengthening of the tibia (n=6) or femur (n=21) using the PRECICE nail were reviewed. The reasons for lengthening included trauma (n=7), hemihypertrophy (n=2), focal femoral deficiency (n=2), Ellis-van Creveld syndrome (n=1), hip septic arthritis sequelae (n=1), hereditary multiple exostosis (n=1), club foot sequela (n=1), congenital tibial pseudoarthrosis (n=1), fibrous dysplasia (n=1), idiopathic limb length discrepancy (n=7), and cosmetic (n=1)...
December 2016: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28009801/classification-of-cruciate-ligament-dysplasia-and-the-severity-of-congenital-fibular-deficiency
#6
Janet L Walker, Todd A Milbrandt, Henry J Iwinski, Vishwas R Talwalkar
BACKGROUND: Dysplasia of the cruciate ligaments has been found in many patients with congenital fibular deficiency. A recent classification system has shown that radiographic tibial spine changes can predict the hypoplasia and aplasia of the cruciate ligaments. We used this radiographic classification to determine the frequency of these abnormalities and how they correlate with the severity of fibular deficiency and lateral femoral condylar hypoplasia. METHODS: Using a hospital database search for fibular deficiency, 99 patients ≥6 years with unilateral fibular deficiency were identified...
December 22, 2016: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/27826907/the-unstable-knee-in-congenital-limb-deficiency
#7
REVIEW
Gabriel T Mindler, Christof Radler, Rudolf Ganger
PURPOSE: Instability of the knee is a common finding in patients with congenital limb deficiency. The instability can be attributed to soft tissue abnormalities, frontal, sagittal or rotational deformity of the lower limb and bony dysplasia of the patella or of the femoral condyles. In most of the cases, these pathomorphologic changes stay asymptomatic in daily activity. However, instability can appear during deformity correction and bone-lengthening procedures, leading to flexion contracture or subluxation of the knee...
December 2016: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/27782934/proximal-femoral-focal-deficiency-associated-with-fibular-duplication-and-diplopodia-and-complete-agenesis-of-the-tibia-a-case-report
#8
Vivek S Chawathe, Anil K Gaur, Badrinath D Athani, Shefali Gupta
A 14-year-old boy reported with congenital deformity of the left lower limb, with gross shortening, hip and knee flexion deformities, ankle with equinus deformity, and polydactyly of the left foot. Radiologic examination showed proximal femoral focal deficiency, double fibula, and duplication of the tarsal bones, and a diagnosis of 'proximal femoral focal deficiency associated with fibular duplication and diplopodia with complete agenesis of tibia' was made. Such association of deformities is very rare and poses difficulties in rehabilitation of the case...
July 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/27726750/imaging-findings-of-metabolic-bone-disease
#9
REVIEW
Connie Y Chang, Daniel I Rosenthal, Deborah M Mitchell, Atsuhiko Handa, Susan V Kattapuram, Ambrose J Huang
Metabolic bone diseases are a diverse group of diseases that result in abnormalities of (a) bone mass, (b) structure mineral homeostasis, (c) bone turnover, or (d) growth. Osteoporosis, the most common metabolic bone disease, results in generalized loss of bone mass and deterioration in the bone microarchitecture. Impaired chondrocyte development and failure to mineralize growth plate cartilage in rickets lead to widened growth plates and frayed metaphyses at sites of greatest growth. Osteomalacia is the result of impaired mineralization of newly formed osteoid, which leads to characteristic Looser zones...
October 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27694593/outcomes-following-femoral-lengthening-an-initial-comparison-of-the-precice-intramedullary-lengthening-nail-and-the-lrs-external-fixator-monorail-system
#10
M Laubscher, C Mitchell, A Timms, D Goodier, P Calder
AIMS: Patients undergoing femoral lengthening by external fixation tolerate treatment less well when compared to tibial lengthening. Lengthening of the femur with an intramedullary device may have advantages. PATIENTS AND METHODS: We reviewed all cases of simple femoral lengthening performed at our unit from 2009 to 2014. Cases of nonunions, concurrent deformities, congenital limb deficiencies and lengthening with an unstable hip were excluded, leaving 33 cases (in 22 patients; 11 patients had bilateral procedures) for review...
October 2016: Bone & Joint Journal
https://www.readbyqxmd.com/read/27678508/hip-stability-during-lengthening-in-children-with-congenital-femoral-deficiency
#11
Mark Eidelman, Julio J Jauregui, Shawn C Standard, Dror Paley, John E Herzenberg
BACKGROUND: Congenital femoral deficiency (CFD) is one of the most challenging and complex conditions for limb lengthening. We focused on the problem of hip instability during femoral lengthening because subluxation and dislocation are potentially catastrophic for hip function. METHODS: We assessed for hip stability in 69 children (91 femoral lengthenings) who had CFD Paley type 1a (43 children) and 1b (26 children). The mean age at first lengthening was 6.4 years...
December 2016: International Orthopaedics
https://www.readbyqxmd.com/read/27622419/proximal-femoral-focal-deficiency-of-the-fetus-early-3d-4d-prenatal-ultrasound-diagnosis
#12
Marek J Kudla, Aleksandra Beczkowska-Kielek, Katarzyna Kutta, Justyna Partyka-Lasota
Proximal Femoral Focal Deficiency (PFFD) is a rare congenital syndrome of unknown etiology. Additional disorders can be present up to 70% of PFFD cases. Management (including termination) depends on the severity of the malformation. We present a case of a 32-year-old woman referred for routine ultrasound examination in the 12th week of pregnancy. Detailed 3D/4D evaluation revealed asymmetry of lower limbs and diagnosis of isolated PFFD was established. Parents were fully informed and decided to continue the pregnancy...
September 2016: Medical Ultrasonography
https://www.readbyqxmd.com/read/27227952/clinical-results-and-complications-of-lower-limb-lengthening-for-fibular-hemimelia-a-report-of-eight-cases
#13
Kenichi Mishima, Hiroshi Kitoh, Koji Iwata, Masaki Matsushita, Yoshihiro Nishida, Tadashi Hattori, Naoki Ishiguro
Fibular hemimelia is a rare but the most common congenital long bone deficiency, encompassing a broad range of anomalies from isolated fibular hypoplasia up to substantial femoral and tibial shortening with ankle deformity and foot deficiency. Most cases of fibular hemimelia manifest clinically significant leg length discrepancy (LLD) with time that requires adequate correction by bone lengthening for stable walking. Bone lengthening procedures, especially those for pathological bones, are sometimes associated with severe complications, such as delayed consolidation, fractures, and deformities of the lengthened bones, leading to prolonged healing time and residual LLD at skeletal maturity...
May 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27185866/long-term-glucocorticoid-effect-on-bone-mineral-density-in-patients-with-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency
#14
Filippo Ceccato, Mattia Barbot, Nora Albiger, Marialuisa Zilio, Pietro De Toni, Giovanni Luisetto, Martina Zaninotto, Nella Augusta Greggio, Marco Boscaro, Carla Scaroni, Valentina Camozzi
INTRODUCTION: Patients with 21-hydroxylase deficiency (21OHD) assume a lifelong glucocorticoid (GC) therapy. Excessive GC treatment increases the risk of osteoporosis and bone fractures, even though the role of substitutive therapy is not fully established: we analyzed the effect of GC dose on bone metabolism and bone mineral density (BMD) over time in patients with 21OHD. METHODS: We studied bone metabolism markers and BMD in 38 adult patients with 21OHD (19-47 years, 24 females and 14 males) and 38 matched healthy control...
August 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/26979810/foetal-fibular-hemimelia-with-focal-femoral-deficiency-following-prenatal-misoprostol-use-a-case-report
#15
P Pallavee, Rupal Samal, Jasmina Begum, Seetesh Ghose
Misoprostol is a well known abortifacient. It can cause teratogenicity like Mobius sequence and terminal transverse limb defects. We report a rare case of proximal focal femoral deficiency with fibular hemimelia in a woman who had attempted abortion with self-administered misoprostol and later continued the pregnancy. Though the absolute risk of congenital malformations with its use is low ∼1%, this should be clearly communicated to the women requesting abortion to help them make fully informed reproductive health decisions...
August 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/26650581/prophylactic-intramedullary-rodding-following-femoral-lengthening-in-congenital-deficiency-of-the-femur
#16
Amr A Abdelgawad, Julio J Jauregui, Shawn C Standard, Dror Paley, John E Herzenberg
INTRODUCTION: Femoral fracture after lengthening of congenital femoral deficiency (CFD) is a common complication with a high incidence, up to 50%. The purpose of this study is to determine whether prophylactic intramedullary Rush rodding after lengthening for CFD is an effective method to prevent femoral fracture and to assess any complications that may result. METHODS: Forty-five femoral lengthenings (43 CFD patients) were performed using external fixation. At the time of frame removal (except for 3 cases, 8 d later), prophylactic intramedullary Rush rods were inserted...
September 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/26600294/avascular-necrosis-in-the-contralateral-hip-in-patients-with-congenital-femoral-deficiency-a-report-of-3-cases
#17
Timothy S Brown, Robert L Wimberly, John G Birch
BACKGROUND: Congenital femoral deficiency is an uncommon clinical entity. We report 3 patients who developed avascular necrosis of the hip in the long (normal) leg during longitudinal observation and/or treatment of congenital femoral deficiency. METHODS: Patients were identified in limb length discrepancy clinic and their charts were retrospectively reviewed for clinical and radiographic data collection. RESULTS: We describe the occurrence of idiopathic avascular necrosis in the normal limb in patients being followed for limb length discrepancy...
January 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/26437563/-successful-anesthetic-management-of-a-patient-with-critical-bleeding-during-hepatectomy-using-recombinant-activated-factor-vii-and-intraoperative-blood-salvage
#18
Hikaru Yamaguchi, Takashi Suzuki, Yuko Shimura, Satoko Goto, Ken-ichi Takahashi, Hanae Awakura, Tadamichi Someya, Kazuyuki Serada
A 58-year-old 79 kg male with metastatic liver cancer was scheduled for hepatectomy. Preoperative examination did not reveal any hemostatic abnormalities. Nine hours into the surgery, a vascular clip attached to the middle hepatic vein was disconnected and rapid bleeding followed. Unscheduled intraoperative cell salvage was employed. Despite surgical hemostasis as well as transfusion with fresh frozen plasma and platelets, significant oozing persisted for 10 hours, and cumulative blood loss amounted to 30,000 ml...
June 2015: Masui. the Japanese Journal of Anesthesiology
https://www.readbyqxmd.com/read/26408260/prenatal-diagnosis-of-proximal-focal-femoral-deficiency-literature-review-of-prenatal-sonographic-findings
#19
REVIEW
Valentina D'Ambrosio, Gaia Pasquali, Antonia Squarcella, Eleonora Marcoccia, Angela De Filippis, Silvia Gatto, Aliberti Camilla, Antonio Pizzuti, Renato La Torre, Antonella Giancotti
Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral shortening and hypoplasia to the absence of any functional femur and acetabular aplasia. Prenatal diagnosis of PFFD is still a challenge, but early recognition of this malformation could provide useful information to both parents and physicians concerning management and therapeutic planning...
May 2016: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/26333739/lengthening-in-congenital-femoral-deficiency-a-comparison-of-circular-external-fixation-and-a-motorized-intramedullary-nail
#20
COMPARATIVE STUDY
Sheena R Black, Michael S Kwon, Alexander M Cherkashin, Mikhail L Samchukov, John G Birch, Chan-Hee Jo
BACKGROUND: Circular external fixation for limb-lengthening is associated with frequent and numerous complications. Intramedullary lengthening devices represent a potential advance in limb-lengthening. The purpose of this study was to compare the outcomes of femoral lengthening in pediatric patients treated by either circular external fixation or a motorized intramedullary nail. METHODS: All patients with a diagnosis of congenital femoral deficiency who had undergone femoral lengthening with either circular external fixation or a motorized intramedullary nail were identified...
September 2, 2015: Journal of Bone and Joint Surgery. American Volume
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