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https://www.readbyqxmd.com/read/27909861/surgical-reconstruction-for-fibular-hemimelia
#1
REVIEW
Dror Paley
Fibular hemimelia presents with foot deformity and leg length discrepancy. Previous classifications have focused on the degree of fibular deficiency rather than the type of foot deformity. Published methods of surgical reconstruction have often failed due to residual or recurrent foot deformity. The purpose of this report is to introduce new classification and reconstruction methods. The Paley SHORDT procedure is used to stabilize the ankle when there is a hypoplastic distal fibula with a dynamic valgus deformity...
December 1, 2016: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/27909860/tibial-hemimelia-new-classification-and-reconstructive-options
#2
REVIEW
Dror Paley
Tibial hemimelia is a rare congenital lower limb deficiency presenting with a wide spectrum of associated congenital anomalies, deficiencies and duplications. Reconstructive options have been limited, and the gold standard for treatment has remained amputation with prosthetic fitting. There is now a better understanding of the genetics, etiology and pathoanatomy of tibial hemimelia. Armed with this knowledge, I present here a new classification to guide treatment and prognosis and then discuss new treatment strategies and techniques for limb reconstruction based on this new classification scheme...
December 1, 2016: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/27676772/prosthesis-alignment-and-knee-valgus-in-individual-with-fibula-hemimelia-study-case
#3
Marie Laberge-Malo, Xavier Rodrigue, Céline Goyette, Annie Pouliot-Laforte, Audrey Parent, Isabelle Marcoux, Laurent Ballaz
OBJECTIVE: Fibula hemimelia is a congenital malformation of the lower limbs that is associated to aplasia or hypoplasia of the fibula. This condition is characterized by knee valgus which tends to increase over years in children walking with a below knee prosthesis. However, few recommendations are available regarding the optimal prosthesis alignment for amputated children with fibula hemimelia. The aim of this case study was to compare different prosthesis alignments and to assess their impact on knee joint moment in the frontal plane during walking...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27676749/orthopedic-treatment-vs-surgery-for-longitudinal-fibular-deficiency
#4
Nathaly Quintero-Prigent, Caroline Radot, Marion Fiat, Malak Fahny, Naima Brennetot
OBJECTIVE: Fibular hemimelia or longitudinal fibular deficiency is the most frequent congenital malformation of lower limbs. It causes sometimes major limbs shortening. Different treatments could be considered depending on the severity of the malformation: contralateral epiphysiodesis, corrective foot and knee osteotomies, leg-lengthening surgery with external fixation, prosthesis. For the most severe cases (15-20cm bone length discrepancies or unstable knee or foot), leg-lengthening surgery with external fixation is not recommended...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27673220/poster-477-successful-prosthetic-rehabilitation-of-fibular-hemimelia-without-extensive-surgical-intervention-a%C3%A2-case-report
#5
Shiel Jhaveri, Amir Mahajer, Dennis H Horn
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/27530878/tibial-hypoplasia-with-a-bifid-tibia-an-unclassified-tibial-hemimelia
#6
Krupa Shah, Hitesh Shah
Tibial hemimelia is a rare congenital limb deficiency which is characterised by a hypoplastic/aplastic tibia. It actually represents a spectrum of anomalies, ranging from mild hypoplasia of the tibia to total absence of the tibia. Several classifications based on radiological description exist in the literature. The tibial hemimelia is usually described with preaxial mirror polydactyly, split hand/foot syndrome-ectrodactyly, polydactyly-triphalangeal thumb syndrome (Werner syndrome) and micromelia-trigonal brachycephaly syndrome...
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27277586/unclassified-tibial-hemimelia
#7
Vishnu Senthil, Imthias V Kottamttavide, Hitesh Shah
Tibial hemimelia (congenital longitudinal deficiency of the tibia) is rare (1 in 1 000 000). There are several classifications in the literature. We report an unclassified case of tibial hemimelia. A 6-year-old girl presented with shortening of the right lower limb, with a small rudimentary foot (presence of all toes) and hyper lax ankle. Quadriceps function was excellent. Radiograph showed a partial tibia and fibula in synostosis. The Jones and Kalamachi type 2 classifications both mention similar tibial anomalies; however, the fibula is normal in both varieties...
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27227952/clinical-results-and-complications-of-lower-limb-lengthening-for-fibular-hemimelia-a-report-of-eight-cases
#8
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/27148571/characterization-of-a-novel-fusion-gene-eml4-ntrk3-in-a-case-of-recurrent-congenital-fibrosarcoma
#9
Sarah Tannenbaum-Dvir, Julia L Glade Bender, Alanna J Church, Katherine A Janeway, Marian H Harris, Mahesh M Mansukhani, Peter L Nagy, Stuart J Andrews, Vundavalli V Murty, Angela Kadenhe-Chiweshe, Eileen P Connolly, Andrew L Kung, Filemon S Dela Cruz
We describe the clinical course of a recurrent case of congenital fibrosarcoma diagnosed in a 9-mo-old boy with a history of hemimelia. Following complete surgical resection of the primary tumor, the patient subsequently presented with bulky bilateral pulmonary metastases 6 mo following surgery. Molecular characterization of the tumor revealed the absence of the prototypical ETV6-NTRK3 translocation. However, tumor characterization incorporating cytogenetic, array comparative genomic hybridization, and RNA sequencing analyses, revealed a somatic t(2;15)(2p21;15q25) translocation resulting in the novel fusion of EML4 with NTRK3...
October 2015: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/26979810/foetal-fibular-hemimelia-with-focal-femoral-deficiency-following-prenatal-misoprostol-use-a-case-report
#10
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...
March 16, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/26791356/tibial-hemimelia-associated-with-gli3-truncation
#11
Steven Deimling, Chris Sotiropoulos, Kimberly Lau, Sonia Chaudhry, Kendra Sturgeon, Simon Kelley, Unni Narayanan, Andrew Howard, Chi-Chung Hui, Sevan Hopyan
Tibial hemimelia is a rare, debilitating and often sporadic congenital deficiency. In syndromic cases, mutations of a Sonic hedgehog (SHH) enhancer have been identified. Here we describe an ~5 kb deletion within the SHH repressor GLI3 in two patients with bilateral tibial hemimelia. This deletion results in a truncated GLI3 protein that lacks a DNA-binding domain and cannot repress hedgehog signaling. These findings strengthen the concept that tibial hemimelia arises because of failure to restrict SHH activity to the posterior aspect of the limb bud...
May 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/26677527/fibular-hemimelia-a-rare-case-report
#12
Samuel Sisay, Daniel Admassie
Fibular hemimelia is a rare congenital absence of the fibula that may occur as an isolated anomaly or as a part of a malformation syndrome. Shortening of the extremity is obvious at birth with leg-length discrepancy. On plain radiograph of the leg and foot, significant deficiency or absence of the fibula can be seen. In this case report, a 6 year old boy with fibular hemimelia is presented. Radiological diagnosis and differential diagnosis are discussed.
July 2015: Ethiopian Medical Journal
https://www.readbyqxmd.com/read/26511689/preliminary-report-on-amputation-versus-reconstruction-in-treatment-of-tibial-hemimelia
#13
Halil İbrahim Balcı, Yavuz Sağlam, Fuat Bilgili, Cengiz Şen, Mehmet Kocaoğlu, Levent Eralp
OBJECTIVE: Tibial hemimelia is a rare disorder characterized by the absence or hypoplasia of the tibia with associated rigidity. The aim of this study was to retrospectively evaluate the affectivity of reconstructive surgeries including centralization of the knee-ankle joints and lengthening with Ilizarov principles, as well as physical and functional results of amputation and reconstruction. METHODS: This is an IRB-approved retrospective review of all patients diagnosed with tibial hemimelia who required surgery at a single institution between 1998 and 2011...
2015: Acta Orthopaedica et Traumatologica Turcica
https://www.readbyqxmd.com/read/26251945/congenital-absence-of-the-anterior-cruciate-ligament
#14
Jothi Murali, Keith Monchik, Paul Fadale
The incidence of congenital absence of the anterior cruciate ligament (ACL) is extremely low. Congenital ACL absence has most often been found in association with conditions such as knee dislocation, knee dysplasia, proximal focal femoral deficiency, and fibular hemimelia. We report on the incidental finding of ACL aplasia in a patient with a medial meniscal tear and history of leg-length discrepancy. As has been found in prior case studies, this patient had hypertrophy of the meniscofemoral ligament of Humphrey, which likely lent her stability...
August 2015: American Journal of Orthopedics
https://www.readbyqxmd.com/read/26172360/common-patterns-of-congenital-lower-extremity-shortening-diagnosis-classification-and-follow-up
#15
REVIEW
Maria A Bedoya, Nancy A Chauvin, Diego Jaramillo, Richard Davidson, B David Horn, Victor Ho-Fung
Congenital lower limb shortening is a group of relatively rare, heterogeneous disorders. Proximal focal femoral deficiency (PFFD) and fibular hemimelia (FH) are the most common pathologic entities in this disease spectrum. PFFD is characterized by variable degrees of shortening or absence of the femoral head, with associated dysplasia of the acetabulum and femoral shaft. FH ranges from mild hypoplasia to complete absence of the fibula with variable shortening of the tibia. The development of the lower limb requires complex and precise gene interactions...
July 2015: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/26076463/a-20-bp-duplication-in-exon-2-of-the-aristaless-like-homeobox-4-gene-alx4-is-the-candidate-causative-mutation-for-tibial-hemimelia-syndrome-in-galloway-cattle
#16
Bertram Brenig, Ekkehard Schütz, Michael Hardt, Petra Scheuermann, Markus Freick
Aristaless-like homeobox 4 (ALX4) gene is an important transcription regulator in skull and limb development. In humans and mice ALX4 mutations or loss of function result in a number of skeletal and organ malformations, including polydactyly, tibial hemimelia, omphalocele, biparietal foramina, impaired mammary epithelial morphogenesis, alopecia, coronal craniosynostosis, hypertelorism, depressed nasal bridge and ridge, bifid nasal tip, hypogonadism, and body agenesis. Here we show that a complex skeletal malformation of the hind limb in Galloway cattle together with other developmental anomalies is a recessive autosomal disorder most likely caused by a duplication of 20 bp in exon 2 of the bovine ALX4 gene...
2015: PloS One
https://www.readbyqxmd.com/read/26035352/reconstruction-of-the-lateral-malleolus-in-a-type-ib-fibular-hemimelia-with-a-microvascular-proximal-fibular-flap-a-case-report
#17
Pedro C Cavadas, Alessandro Thione
Fibular hemimelia, or fibular hypoplasia-aplasia, is the most frequent congenital long-bone deficiency. There is still some debate on reconstruction versus amputation for the severe type Ib and type II cases. Limb-length discrepancy can be corrected with Ilizarov methods, but ankle stability remains a problem. The absence of the lateral malleolus destabilizes the mortise in valgus and ankle fusion is usually needed. A case of lateral malleolus reconstruction in a teenage patient with severe type-Ib fibular hemimelia using a contralateral free proximal fibular epiphyseal transfer is reported...
July 2015: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/26019025/functional-assessment-in-tibial-hemimelia-can-we-also-save-the-foot-in-reconstruction
#18
G Hossain Shahcheraghi, Mahzad Javid
BACKGROUND: The congenital absence of the tibia is a rare disease, and an orthopaedic surgeon may not encounter such cases during the course of his/her career. This is the largest report to date of the management of such cases by a single surgeon. The foot and leg were persevered in the majority of the cases, and a functional evaluation system was used to report outcomes. METHODS: Thirty-six patients with tibial hemimelia, who had been under the direct care of the authors since infancy, were evaluated clinically and radiographically...
September 2016: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/25920687/imaging-features-of-lower-limb-malformations-above-the-foot
#19
REVIEW
A Bergère, E Amzallag-Bellenger, G Lefebvre, A Dieux-Coeslier, A Mezel, B Herbaux, N Boutry
Lower limb malformations are generally isolated or sporadic events. However, they are sometimes associated with other anomalies of the bones and/or viscera in patients with constitutional syndromes or disorders of the skeleton. This paper reviews the main imaging features of these abnormalities, which generally exhibit a broad spectrum. This paper focuses on several different bone malformations: proximal focal femoral deficiency, congenital short femur and femoral duplication for the femur, tibial hemimelia (aplasia/hypoplasia of the tibia) and congenital bowing for the tibia, fibular hemimelia (aplasia/hypoplasia) for the fibula, and aplasia, hypoplasia and congenital dislocation for the patella...
September 2015: Diagnostic and Interventional Imaging
https://www.readbyqxmd.com/read/25892381/massage-therapy-effects-in-a-long-term-prosthetic-user-with-fibular-hemimelia
#20
Erika Rae Larson
BACKGROUND: Individuals with lower limb amputation (LLA) commonly experience low back pain (LBP). Although massage effects on LBP are well-documented, research regarding massage for individuals with LLA is scarce. OBJECTIVES: This study evaluated the effectiveness of massage therapy to promote activity level, decrease LBP, and improve health-related quality of life (HRQOL) in a long-term prosthetic user. METHODS: The 50-day study consisted of two baseline sessions, seven treatment sessions that included a 50-min massage applied to major gait muscles, and two follow-up sessions...
April 2015: Journal of Bodywork and Movement Therapies
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