keyword

arthrogryposis hip | Page 2

keyword
https://read.qxmd.com/read/26808426/novel-vipas39-mutation-in-a-syndromic-patient-with-arthrogryposis-renal-tubular-dysfunction-and-intrahepatic-cholestasis
#21
Majid Aflatounian, Holly Smith, Fatemeh Farahani, Azam Tofighi Naeem, Anna Straatman-Iwanowska, Samaneh Zoghi, Urvi Khatri, Parisa Tajdini, Gholam Hossein Fallahi, Paul Gissen, Nima Rezaei
ARC syndrome is a rare autosomal recessive disease, characterized by arthrogryposis, renal tubular dysfunction and cholestasis. Herein a 2.5 month old infant with dysmorphic features, including small anterior fontanel, low set ears, beaked nose and high arched palate is presented who was referred because of icterus. He also suffered from some additional anomalies, including unilateral choanal atresia, club foot, and bilateral developmental dislocation of hip, while further studies showed renal tubular acidosis and hearing impairment in addition to cholestasis...
April 2016: European Journal of Medical Genetics
https://read.qxmd.com/read/26607193/bilateral-total-hip-replacement-in-arthrogryposis-multiplex-congenita
#22
David Michael Dalton, Paul Magill, Kevin James Mulhall
The authors present a case of bilateral total hip replacements (THRs) in a 56-year-old patient with arthrogryposis multiplex congenita (AMC). The considerations for the perioperative period and the outcome are discussed. Preoperative planning included an anaesthetic review and availability of fiberoptic intubation due to poor mouth opening. Perioperatively, contractures can make positioning and exposure difficult but in this case a standard posterior approach was taken. Particular attention was given to soft tissue balancing given the theoretical risk of dislocation...
November 25, 2015: BMJ Case Reports
https://read.qxmd.com/read/26141802/-arthrogryposis-clinical-manifestations-and-management
#23
K Ayadi, M Trigui, A Abid, A Cheniour, M Zribi, H Keskes
INTRODUCTION: Arthrogryposis is a condition existing at birth, seen in different diseases that have in common the existence of multiple joint stiffness. The clinical presentation is diversified and the functional prognosis depends on the etiology, which makes therapeutic options different from one case to another. The objective of this study was to describe clinical manifestations observed in arthrogrypotic patients and show the different therapeutic methods and functional results. METHODS: This was a retrospective study over a period of 12 years from 2000 to 2012, based on clinical examinations of 23 patients with arthrogryposis...
August 2015: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://read.qxmd.com/read/26090968/incidence-of-hip-dysplasia-associated-with-bladder-exstrophy
#24
Andrew Mundy, Indranil Kushare, Venkata R Jayanthi, Walter P Samora, Kevin E Klingele
BACKGROUND: Exstrophy of the bladder is a rare congenital defect seen in 2.15 children out of every 100,000 live births, with the most severe variant, cloacal exstrophy (CE), only occurring in 1 in 200,000. Developmental dysplasia of the hip (DDH) describes a spectrum of disease ranging from mild hip instability to frank dislocation. Underlying malformations, such as myelomeningocele and arthrogryposis, are often associated with the most severe variant of hip dysplasia, teratologic hip dislocation...
December 2016: Journal of Pediatric Orthopedics
https://read.qxmd.com/read/25612909/musk-a-new-target-for-lethal-fetal-akinesia-deformation-sequence-fads
#25
Maria Wilbe, Sara Ekvall, Karin Eurenius, Katharina Ericson, Olivera Casar-Borota, Joakim Klar, Niklas Dahl, Adam Ameur, Göran Annerén, Marie-Louise Bondeson
BACKGROUND: Fetal akinesia deformation sequence syndrome (FADS, OMIM 208150) is characterised by decreased fetal movement (fetal akinesia) as well as intrauterine growth restriction, arthrogryposis, and developmental anomalies (eg, cystic hygroma, pulmonary hypoplasia, cleft palate, and cryptorchidism). Mutations in components of the acetylcholine receptor (AChR) pathway have previously been associated with FADS. METHODS AND RESULTS: We report on a family with recurrent fetal loss, where the parents had five affected fetuses/children with FADS and one healthy child...
March 2015: Journal of Medical Genetics
https://read.qxmd.com/read/25552425/biomechanics-of-foetal-movement
#26
REVIEW
N C Nowlan
Foetal movements commence at seven weeks of gestation, with the foetal movement repertoire including twitches, whole body movements, stretches, isolated limb movements, breathing movements, head and neck movements, jaw movements (including yawning, sucking and swallowing) and hiccups by ten weeks of gestational age. There are two key biomechanical aspects to gross foetal movements; the first being that the foetus moves in a dynamically changing constrained physical environment in which the freedom to move becomes increasingly restricted with increasing foetal size and decreasing amniotic fluid...
January 2, 2015: European Cells & Materials
https://read.qxmd.com/read/25497877/phenotypic-and-molecular-insights-into-spinal-muscular-atrophy-due-to-mutations-in-bicd2
#27
Alexander M Rossor, Emily C Oates, Hannah K Salter, Yang Liu, Sinead M Murphy, Rebecca Schule, Michael A Gonzalez, Mariacristina Scoto, Rahul Phadke, Caroline A Sewry, Henry Houlden, Albena Jordanova, Iyailo Tournev, Teodora Chamova, Ivan Litvinenko, Stephan Zuchner, David N Herrmann, Julian Blake, Janet E Sowden, Gyuda Acsadi, Michael L Rodriguez, Manoj P Menezes, Nigel F Clarke, Michaela Auer Grumbach, Simon L Bullock, Francesco Muntoni, Mary M Reilly, Kathryn N North
Spinal muscular atrophy is a disorder of lower motor neurons, most commonly caused by recessive mutations in SMN1 on chromosome 5q. Cases without SMN1 mutations are subclassified according to phenotype. Spinal muscular atrophy, lower extremity-predominant, is characterized by lower limb muscle weakness and wasting, associated with reduced numbers of lumbar motor neurons and is caused by mutations in DYNC1H1, which encodes a microtubule motor protein in the dynein-dynactin complex and one of its cargo adaptors, BICD2...
February 2015: Brain
https://read.qxmd.com/read/25430710/corrections-of-lower-limb-deformities-in-patients-with-diastrophic-dysplasia
#28
Ali Al Kaissi, Vladimir Kenis, Eugeniy Melchenko, Farid Ben Chehida, Rudolf Ganger, Klaus Klaushofer, Franz Grill
OBJECTIVE: Accurate understanding of the cause of the underlying pathology in children with diastrophic dysplasia would help in designing targeted management of their locomotion. METHODS: Diastrophic dysplasia was diagnosed in twelve patients (nine girls and three boys; age range 1-14 years), all of whom presented with small stature and apparent short extremities. Club foot (mostly talipes equinovarus) was the most frequent and consistent abnormality. Concomitant abnormalities such as hip flexion contracture, flexion contractures of the knees with excessive valgus deformity and lateral patellar subluxation, were also encountered...
November 2014: Orthopaedic Surgery
https://read.qxmd.com/read/25143649/walking-ability-in-patients-with-arthrogryposis-multiplex-congenita
#29
Perajit Eamsobhana, Kamolporn Kaewpornsawan, Ekasame Vanitcharoenkul
BACKGROUND: Arthrogryposis multiplex congenita (AMC) is a multiple joint condition which affects both lower and upper extremities and thus affects ambulation. Multiple surgeries are needed to correct limb deformity in order to promote walking. The objective of this study is to identify the most critical residual deformity that diminishes the ambulatory status. MATERIALS AND METHODS: 51 patients were included in this study, 14 patients were nonambulatory. The mean age at first surgery was 4...
July 2014: Indian Journal of Orthopaedics
https://read.qxmd.com/read/25099528/distal-arthrogryposis-type-5d-with-a-novel-ecel1-gene-mutation
#30
Siddaramappa J Patil, Gaurava Kumar Rai, Venkatraman Bhat, Vakkalagadda A Ramesh, H A Nagarajaram, Jyoti Matalia, Shubha R Phadke
Distal arthrogryposis syndromes (DAs) show wide clinical variability and overlapping clinical findings with the other DAs classified by Bamshad et al. [1996]. Most of the DAs are inherited as autosomal dominant disorders. DA type 5D is a subtype of DA type 5 inherited as autosomal recessive disorder, clinically characterized by congenital distal joint contractures, knee extension contractures, congenital hip dislocation, club foot, ptosis and other eye findings, furrowed tongue, and scoliosis. Here, we report on a family with clinical features of DA type 5D with novel mutations in the ECEL1 gene...
November 2014: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/24730009/total-hip-and-knee-replacement-in-a-patient-with-arthrogryposis-multiplex-congenita
#31
REVIEW
Kimberly A Fisher, David A Fisher
Arthrogryposis multiplex congenita (AMC) is a complex disorder that leads to joint stiffness and deformities in 2 or more joints in afflicted children. Late manifestations of this disorder can include secondary degeneration of the abnormal joints with arthritic symptoms of pain and loss of function. There are few reports in the orthopedic literature on the use of total joint arthroplasty to improve the pain and function in patients with arthrogryposis. This case report presents one patient who underwent bilateral total hip and total knee arthroplasties for deteriorating function and pain in her hips and knees secondary to the congenital deformities created by arthrogryposis multiplex congenita...
April 2014: American Journal of Orthopedics
https://read.qxmd.com/read/24472885/nonlethal-multiple-pterygium-syndrome-escobar-syndrome
#32
Robin L Bissinger, Frances R Koch
Nonlethal Escobar is a rare disorder that is a variant of multiple pterygium syndromes. It is a form of arthrogryposis multiplex congenita characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. It is usually diagnosed in utero on fetal ultrasound and then confirmed in the neonatal period. A case of nonlethal neonatal Escobar is reported in a 35-week-and-6-day old infant who presented in utero with decreased fetal movement, oligohydramnios, and arthrogryposis...
February 2014: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://read.qxmd.com/read/24387803/effect-of-compensatory-trunk-movements-on-knee-and-hip-joint-loading-during-gait-in-children-with-different-orthopedic-pathologies
#33
Felix Stief, Harald Böhm, Carsten Ebert, Leonhard Döderlein, Andrea Meurer
Ipsilateral trunk lean toward the affected stance limb has been identified as a compensatory mechanism to unload the hip joint. However, this altered gait pattern increases the lever arm around the knee joint by shifting the ground reaction vector more lateral to the knee joint center, which could be sufficient to deform the lateral compartment of the knee. The purpose of the present study was to show the effect of ipsilateral trunk lean on hip and knee joint moments in the frontal plane in 132 young patients with different orthopedic diagnosis...
March 2014: Gait & Posture
https://read.qxmd.com/read/24331328/herbert-capsuloplasty-and-burnei-tenomyoplasty-for-the-correction-of-genu-flexum-in-cerebral-palsy-arthrogryposis-and-posttraumatic
#34
S Gavriliu, I Georgescu, A Ulici, R Ghita, E M Japie, N Pandea, A Pârvan, C Burnei, I L Tiripa, A Martiniuc, S Hamei, I Draghici
INTRODUCTION: Studies of gait dynamics revealed the complex motions that the knee must undergo in sync with the hip and ankle, in both the swing and support phase of walking. If these motions are restricted, usually as a consequence of cerebral palsy or arthrogryposis, normal gait is hindered; the patient may be able to walk for very short distances or, eventually, not at all. Children with knee extension limited by 10 - 30 degrees,especially those with cerebral palsy, exhibit a stance compatible with walking...
November 2013: Chirurgia
https://read.qxmd.com/read/24215600/arthrogryposis-in-infancy-multidisciplinary-approach-case-report
#35
Anna Binkiewicz-Glinska, Agnieszka Sobierajska-Rek, Stanislaw Bakula, Jolanta Wierzba, Konrad Drewek, Ireneusz M Kowalski, Katarzyna Zaborowska-Sapeta
BACKGROUND: Arthrogryposis multiplex congenita is an etiopathogenetically heterogeneous disorder characterised by non-progressive multiple intra-articular contractures, which can be recognised at birth. The frequency is estimated at 1 in 3,000 newborns. Etiopathogenesis of arthrogryposis is multifactorial. CASE PRESENTATION: We report first 26 weeks of life of a boy with severe arthrogryposis. Owing to the integrated rehabilitation approach and orthopaedic treatment a visible improvement in the range of motion as well as the functionality of the child was achieved...
November 11, 2013: BMC Pediatrics
https://read.qxmd.com/read/24140953/pathological-trunk-motion-during-walking-in-children-with-amyoplasia-is-it-caused-by-muscular-weakness-or-joint-contractures
#36
Harald Böhm, Chakravarthy U Dussa, Christel Multerer, Leonhard Döderlein
The aim was to investigate the causes for pathological trunk movements during gait in children with Amyoplasia. Eighteen children with Amyoplasia were compared with 18 typically developed children. Three-dimensional motions of pelvis, thorax and spine during gait were analyzed. Excessive trunk movements were defined as being above 4 standard deviations of those of typically developed children. Clinical examination of active strength and passive range of motion of the hip, knee and ankle joints were correlated to the parameter that showed the greatest prevalence of pathological trunk motion...
November 2013: Research in Developmental Disabilities
https://read.qxmd.com/read/23553484/severe-congenital-ryr1-associated-myopathy-the-expanding-clinicopathologic-and-genetic-spectrum
#37
Diana Xerxes Bharucha-Goebel, Mariarita Santi, Livija Medne, Kristen Zukosky, Kristin Zukosky, Jahannaz Dastgir, Perry B Shieh, Thomas Winder, Gihan Tennekoon, Richard S Finkel, James J Dowling, Nicole Monnier, Carsten G Bönnemann
OBJECTIVE: To report a series of 11 patients on the severe end of the spectrum of ryanodine receptor 1 (RYR1) gene-related myopathy, in order to expand the clinical, histologic, and genetic heterogeneity associated with this group of patients. METHODS: Eleven patients evaluated in the neonatal period with severe neonatal-onset RYR1-associated myopathy confirmed by genetic testing were ascertained. Clinical features, molecular testing results, muscle imaging, and muscle histology are reviewed...
April 23, 2013: Neurology
https://read.qxmd.com/read/23444103/pretibial-linear-vertical-creases-or-indentations-shin-dimples-associated-with-arthrogryposis
#38
Judith G Hall
Among 2,500 cases of arthrogryposis, 14 families and 17 individuals were identified that had a linear vertical crease (indentation/dimple) along the anterior tibia, usually bilaterally. Approximately half had developmental delay/intellectual disability and the others had normal intellectual development. There are generalized flexion contractures with the legs more severely affected than the arms. The ankles are flexed at birth suggesting a relationship of contraction of the anterior tibial compartment to the in utero development of the anterior tibial crease...
April 2013: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/22784907/management-of-acl-elongation-in-the-surgical-treatment-of-congenital-knee-dislocation
#39
Kevin E Klingele, Scott Stephens
Congenital knee dislocation is a rare anomaly associated with a variety of neuromuscular diseases and deformities. The etiology of this condition remains unclear, but it is usually associated with a variety of disorders, such as Larsen's syndrome, arthrogryposis, spondyloepiphyseal dysplasia, Ehlers-Danlos syndrome, Down syndrome, and Streeter's dysplasia. It is rarely an isolated entity, and 60% of patients with congenital knee dislocation had additional congenital anomalies, most commonly hip dysplasia. The ideal method of treatment is debated...
July 1, 2012: Orthopedics
https://read.qxmd.com/read/22735921/surgical-treatment-of-hip-dislocation-in-amyoplasia-type-arthrogryposis
#40
Akifusa Wada, Toru Yamaguchi, Tomoyuki Nakamura, Haruhisa Yanagida, Kazuyuki Takamura, Yutaka Oketani, Hideaki Kubota, Toshio Fujii
We reviewed our clinical and radiographic results in the operative treatment of five unilateral and six bilateral hip dislocations in 11 patients with amyoplasia-type arthrogryposis. The mean age at surgery was 1.8 (range, 1.1-3.2) years. Femoral and/or pelvic osteotomies were combined with an open reduction. The mean follow-up period was 12.7 (range, 5.2-23.2) years. Nine patients were community walkers and two were household walkers. The range of motion and the St Clair hip score of the bilateral hips were not significantly different from those of the unilateral hips...
September 2012: Journal of Pediatric Orthopedics. Part B
keyword
keyword
71591
2
3
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"