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Hemimelia

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https://www.readbyqxmd.com/read/28336328/bone-healing-is-achievable-despite-extensive-wound-dehiscence-and-wide-plate-and-screws-exposure-in-children
#1
Elias Melhem, Wael Bayoud, Ismat Ghanem
BACKGROUD: Extensive wound dehiscence and wide plate and screw exposure in the early weeks following orthopaedic surgery in children is usually managed either by extensive debridement, lavage and secondary closure or hardware removal and external fixation. PATIENTS: Three children with LCP plate and screws exposure were managed by simple repetitive debridement and local wound care without any IV antibiotics, nor secondary closure or hardware removal. All three cases occurred in the tibia, one following tibial osteotomy in lateral hemimelia with a long history of previous surgeries, one following wide excision of a tibial Ewing sarcoma with chemo and radiotherapy, and the third following wide excision of a 12cm necrotic tibial segment due to chronic osteomyelitis...
March 20, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28208595/congenital-malformations-in-river-buffalo-bubalus-bubalis
#2
REVIEW
Sara Albarella, Francesca Ciotola, Emanuele D'Anza, Angelo Coletta, Luigi Zicarelli, Vincenzo Peretti
The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival...
February 10, 2017: Animals: An Open Access Journal From MDPI
https://www.readbyqxmd.com/read/28050636/systematic-radiographic-evaluation-of-tibial-hemimelia-with-orthopedic-implications
#3
Katia Kaplan-List, Nina B Klionsky, James O Sanders, Michael E Katz
Tibial hemimelia is a rare lower-extremity pre-axial longitudinal deficiency characterized by complete or partial absence of the tibia. The reported incidence is 1 in 1 million live births. In this pictorial essay, we define tibial hemimelia and describe associated conditions and principles of preoperative imaging assessment for a child with tibial hemimelia. We also indicate the imaging findings that might influence the choice of treatment, describe the most widely used classification systems, and briefly discuss current treatment approaches...
January 3, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28045068/elucidating-the-genetic-basis-of-an-oligogenic-birth-defect-using-whole-genome-sequence-data-in-a-non-model-organism-bubalus-bubalis
#4
Lynsey K Whitacre, Jesse L Hoff, Robert D Schnabel, Sara Albarella, Francesca Ciotola, Vincenzo Peretti, Francesco Strozzi, Chiara Ferrandi, Luigi Ramunno, Tad S Sonstegard, John L Williams, Jeremy F Taylor, Jared E Decker
Recent strong selection for dairy traits in water buffalo has been associated with higher levels of inbreeding, leading to an increase in the prevalence of genetic diseases such as transverse hemimelia (TH), a congenital developmental abnormality characterized by absence of a variable distal portion of the hindlimbs. Limited genomic resources available for water buffalo required an original approach to identify genetic variants associated with the disease. The genomes of 4 bilateral and 7 unilateral affected cases and 14 controls were sequenced...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28035313/rare-case-of-tibial-hemimelia-preaxial-polydactyly-and-club-foot
#5
Guinevere Granite, John E Herzenberg, Ronald Wade
A seven-month old female presented with left tibial hemimelia (or congenital tibial aplasia; Weber type VIIb, Jones et al type 1a), seven-toed preaxial polydactyly, and severe club foot (congenital talipes equinovarus). Definitive amputation surgery disarticulated the lower limb at the knee. This case report describes the anatomical findings of a systematic post-amputation examination of the lower limb's superficial dissection, X-rays, and computed tomography (CT) scans. From the X-rays and CT scans, we found curved and overlapping preaxial supernumerary toes, hypoplastic first metatarsal, lack of middle and distal phalanges in one supernumerary toe, three tarsal bones, hypoplastic middle phalanx and no distal phalanx for fourth toe, and no middle or distal phalanges for fifth toe...
December 16, 2016: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/27909861/surgical-reconstruction-for-fibular-hemimelia
#6
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 2016: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/27909860/tibial-hemimelia-new-classification-and-reconstructive-options
#7
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 2016: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/27676772/prosthesis-alignment-and-knee-valgus-in-individual-with-fibula-hemimelia-study-case
#8
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
#9
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
#10
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
#11
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...
August 16, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27277586/unclassified-tibial-hemimelia
#12
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...
June 8, 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
#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/27148571/characterization-of-a-novel-fusion-gene-eml4-ntrk3-in-a-case-of-recurrent-congenital-fibrosarcoma
#14
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
#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/26791356/tibial-hemimelia-associated-with-gli3-truncation
#16
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
#17
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
#18
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
#19
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
#20
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
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