Genomes and Genes
Summary: Alterations or deviations from normal shape or size which result in a disfigurement of the hand.
Publications169 found, 100 shown here
- Striatal deformities of the hand and foot in Parkinson's diseaseRamsey Ashour
Parkinson s Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA
Lancet Neurol 4:423-31. 2005..and in the absence of cardinal parkinsonian signs, such as tremor, bradykinesia, and rigidity-because the hand deformities are similar to those in rheumatoid arthritis, equinovarus foot deformity typically suggests an orthopaedic ..
- Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 geneStavit A Shalev
The Genetics Institute, Ha Emek Medical Center, Afula, Israel
Am J Med Genet A 140:162-5. 2006..The affected individuals in this family demonstrated clinical variability particularly in their cognitive skills, raising the question whether other genetic factors might be involved in the phenotypic evolution of ASS...
- Mild optic nerve hypoplasia with retinal venous tortuosity in aarskog (facial-digital-genital) syndromeAryan Jogiya
Department of Ophthalmology, St Thomas Hospital, London, UK
Ophthalmic Genet 26:139-41. 2005..There are several reported ophthalmic findings associated with Aarskog syndrome which are discussed. We describe a case of Aarskog syndrome with venous tortuosity, optic nerve hypoplasia, and a type-2 antithrombin deficiency...
- Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girlsTomoki Kosho
Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
Am J Med Genet A 138:282-7. 2005..They had constipation and recurrent cystitis with an enlarged bladder. In view of these findings, we propose that these two girls represent a clinically recognizable subgroup of EDS type VIB...
- Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-IH Fujioka
Department of Plastic Surgery, Hokkaido University Graduate School of Medicine, Hokkaido 060 8638, Japan
Clin Genet 67:429-33. 2005..These results will help to define the phenotypic spectrum of GLI3 morphopathies, which have been recently proposed...
- Magnetic resonance imaging to visualize the internal anatomy in the Baller-Gerold syndromeG J Duncan
Department of Orthopaedics and Rehabilitation, University of New Mexico School of Medicine, Albuquerque 87131 5296
J Hand Surg Am 18:588-92. 1993..Resection of the anlage resulted in dramatic improvement in elbow extension, but additional follow-up will be necessary to determine the complete functional effect of the procedure...
- [Pain and tumefaction of the hands and feet in a 9-month old infant]V Tenorio Romojaro
Servicio de Pediatria, Hospital de Terrassa, Barcelona, Spain
An Pediatr (Barc) 62:295-6. 2005
- Four cases with hypoplastic thumbs and encephalocelesTaosheng Huang
Division of Genetics and Metabolism, Children s Hospital, Boston, Massachusetts, USA
Am J Med Genet 111:178-81. 2002..The literature and database were searched intensively. No similar cases were reported previously, suggesting that the constellations might represent a new genetic syndrome...
- Fryns syndromeS M Jog
Department of Neonatology, Kirwan Hospital for Women, Townsville, Queensland 4814, Australia
J Postgrad Med 48:129-30. 2002
- Split hand foot malformation is associated with a reduced level of Dactylin gene expressionD Basel
Department of Pediatrics, University of Connecticut Health Center, Farmington, CT 06030, USA
Clin Genet 64:350-4. 2003..Here, we report a significant decrease of Dactylin transcript in several individuals affected by SHFM. This observation supports a central role for dactylin in the pathogenesis of SHFM...
- Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individualsS G Ahn
Oral Biology Research Institute, College of Dentistry, Chosun University, Gwangju, South Korea
Int J Oral Maxillofac Surg 33:458-62. 2004..The frequencies of the minor criteria concur in general with the ranges given by some others. It is concluded that these differences may be attributed to genetic and geographic differences...
- The association of split hand foot malformation (SHFM) and congenital heart defectsAlison M Elliott
Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada
Birth Defects Res A Clin Mol Teratol 82:425-34. 2008..SHFM occurs as an isolated finding or in association with other anomalies, including congenital heart defects (CHDs)...
- The psychological and social impact of disfigurement to the hand in children and adolescentsEileen Bradbury
The Manor Lodge Consulting Centre, The Alexandra Hospital, Cheadle, Cheshire SK8 2NT, UK
Dev Neurorehabil 10:143-8. 2007..The process of decision-making allowed families and the older children to engage in a therapeutic approach...
- Oral-clinical findings and management of epidermolysis bullosaFiliz Namdar Pekiner
Marmara University, Faculty of Dentistry, Department of Oral Diagnosis and Radiology, Istanbul, Turkey
J Clin Pediatr Dent 30:59-65. 2005..While systemic treatment remains primarily palliative, it is possible to prevent destruction and subsequent loss of the dentition through appropriate interventions and dental therapy...
- [Double toe to hand transfer in children with symbrachydactyly]S Rivas
Unidad de Cirugía Plástica Pediátrica, Hospital Infantil La Paz, Madrid
Cir Pediatr 19:173-6. 2006..The range of clinical presentations goes from hypoplastic fingers to true agenesis. Although it usually appears in a random fashion, sometimes it is associated to other systemic malformations...
- Imaging of the hand, techniques and pathology: a pictorial essayK J van Zwieten
JBR-BTR 90:395-455. 2007
- Volunteering in the developing world: The 2003-2004 Sterling Bunnell Traveling Fellowship to Honduras and CambodiaKevin C Chung
Section of Plastic Surgery, Department of Surgery, The University of Michigan Health System, Ann Arbor, MI 48109 0340, USA
J Hand Surg Am 29:987-93. 2004..I had the unique opportunities to work in Honduras and Cambodia, 2 countries with rich cultural heritage residing at opposite ends of the world. This report describes my observations and my experiences in these 2 countries...
- [The spastic hand. Postoperative rehabilitation]B Doll
Orthopädische Klinik und Poliklinik der Freien Universität Berlin, Zentralklinik Emil von Behring, Träger Stiftung Oskar Helene Heim
Orthopade 32:402-5. 2003..This period is finished when the specific aim has been achieved, i.e., integration of the gained function into everyday life...
- [The posterior interosseous flap in the child: 13 case reports]J N Goubier
Service de Chirurgie Orthopedique et Traumatologique, Urgences Mains, Hopital Bichat Claude Bernard, 46, rue Henri Huchard, 75877 Paris, France
Chir Main 21:102-6. 2002..The posterior interosseous flap is used to cover skin defects in the hand, wrist, forearm and elbow. It is currently, commonly indicated for adults, but it may be used for child too...
- The anatomy and treatment of camptodactyly of the small fingerR M McFarlane
Division of Plastic Surgery, University of Western Ontario, London, Canada
J Hand Surg Am 17:35-44. 1992..Overall, the joint contracture was reduced from 49 degrees to 25 degrees, but only 33% of the patients regained full flexion of the small finger...
- A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle padsMasashi Akiyama
J Invest Dermatol 127:1540-3. 2007
- Legg-Perthes disease-like joint involvement and diagnosis delay in Scheie syndrome: a case reportMeltem Alkan Melikoglu
Department of Physical Medicine and Rehabilitation, School of Medicine, Akdeniz University, Antalya, Turkey
Clin Rheumatol 26:1937-9. 2007..An increased awareness of the disease may contribute to more accurate diagnosis, and patients may benefit from early intervention...
- [Hand allograft in agenesic newborn: feasibility study]A Gazarian
Chirurgie de la main et du membre supérieur, Clinique du Parc, Hopital Debrousse, pavillons Tbis orthopédie pédiatrique et V transplantation, Hopital Edouard Herriot, 86, boulevard des Belges, 69006 Lyon, France
Ann Chir Plast Esthet 52:451-8. 2007..This research is useful because, even if hand allograft in agenesic newborn will never be done, the provided information will allow to progress in the vaster domain of composite tissue allotransplantation in perinatology...
- The acute effects of mild traumatic brain injury on finger tapping with and without word repetitionVeronica Eileen De Monte
Cognitive Psychophysiology Laboratory, University of Queensland, Herston, Brisbane, Queensland, Australia
J Clin Exp Neuropsychol 27:224-39. 2005..An increase in female sample size is warranted. These results confirm the view that there is a generalized slowing of processing ability following mTBI...
- [Splints in occupational therapy of the hand in an Austrian central hospital--current status]Mohammad Yahya Keilani
Universitätsklinik für Physikalische Medizin und Rehabilitation, Wahringer Gurtel 18 20, A 1090 Wien
Wien Med Wochenschr 153:222-4. 2003..In this study documenting the clinical practice of a medical center was primarily aimed at providing the basis for further discussion of both factual and economic aspects of future developments in splinting...
- Analysis of finger extensor mechanism strainsP T Hurlbut
University of Vermont, Department of Orthopaedics and Rehabilitation, Burlington, USA
J Hand Surg Am 20:832-40. 1995..Based on our experimental findings, we conclude that strain analysis is an effective method of evaluation of the extensor mechanism with potential for in vivo surgical applications...
- A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndromeK Becker
Genetics Centre, Guy's and St Thomas' NHS Trust, Guy's Hospital, London, UK
Clin Dysmorphol 10:41-5. 2001..We report a family with distal arthrogryposis and cleft palate which demonstrates the clinical overlap between Gordon syndrome and Aase-Smith syndrome. The two syndromes may represent a single clinical entity...
- [Dystrophic epidermolysis bullosa: surgical treatment of advanced hand deformities]P Siepe
Plastische, Wiederherstellende, Hand und Mikrochirurgie, Johanniter Krankenhaus, Bonn
Handchir Mikrochir Plast Chir 34:307-13. 2002..Following repetitive trauma (friction), this process leads to severe hand deformities with digits contracted in flexion, the thumb contracted in adduction and pseudo-syndactyly...
- Outcomes of silicone arthroplasty for rheumatoid metacarpophalangeal joints stratified by fingersKevin C Chung
Section of Plastic Surgery, Department of Surgery, University of Michigan Health System, Ann Arbor, MI 48109 0340, USA
J Hand Surg Am 34:1647-52. 2009..This study examines various components of hand deformities in an effort to understand SMPA outcomes in terms of metacarpophalangeal (MCP) joint range of motion and ..
- Toe to hand transfer in children. Part 1: technical aspectsS P Kay
Department of Plastic Surgery, St James s University Hospital, Leeds, UK
J Hand Surg Br 21:723-34. 1996Between 1988 and 1994 40 children (age range 9 months-14 years) with either congenital (85%) or acquired hand deformities underwent reconstruction by microvascular autotransplantation of one or more toes...
- Classification system for factitious syndromes in the hand with implications for treatmentB K Grunert
Department of Psychology, Medical College of Wisconsin, Milwaukee, Wis
J Hand Surg Am 16:1027-30. 1991..disorders based on physical presentation were self-mutilation and wound manipulation, edema, and finger and hand deformities. Two distinct psychological diagnoses present were factitious disorder with physical symptoms and conversion ..
- The musculoskeletal manifestations of the Coffin-Lowry syndromeJose A Herrera-Soto
Nemours Children s Clinic Orlando, Orlando, FL 32806, USA
J Pediatr Orthop 27:85-9. 2007..Hypoplasia of the ilium and hand deformities are common but do not seem to cause any functional problems...
- Combined tarsal and carpal tunnel syndrome in mucolipidosis type III. A case study and reviewIzelle Smuts
Department of Pediatrics and Child Health, University of Pretoria, Pretoria Academic Hospital, Totiusdal, South Africa
Ann N Y Acad Sci 1151:77-84. 2009..Less common clinical features, such as carpal tunnel syndrome, claw hand deformities, trigger fingers, and claw toes have previously been reported, but no specific association with tarsal tunnel ..
- [Bone lengthening by distraction of the metacarpal or phalanx in children]D Valenti
Service de chirurgie plastique infantile, Hôpital de la Timone Enfants, 264, rue Saint Pierre, 13385 Marseille 05, France
Chir Main 25:298-302. 2006We report the results of bone lengthening using progressive distraction performed for congenital hand deformities in 12 children between 1998 and 2004. The series is retrospective. Patients were aged between 2 and 11 years...
- Syndactyly: can web creep be avoided?A L Moss
Department of Plastic and Reconstructive Surgery, Frenchay Hospital, Bristol
J Hand Surg Br 15:193-200. 1990Syndactyly is one of the most common congenital hand deformities but there still remains a high incidence of contractures and web creep after attempts at surgical correction using many assorted techniques...
- Digital lengthening in congenital hand deformitiesT Ogino
Department of Physical Therapy, Sapporo Medical University, Japan
J Hand Surg Br 19:120-9. 1994..After metacarpal lengthening, pinch function was improved in seven out of eight patients with either transverse deficiency or constriction band syndrome, and aesthetic improvement was achieved in three patients with brachydactyly...
- A prospective study comparing outcomes after reconstruction in rheumatoid arthritis patients with severe ulnar drift deformitiesKevin C Chung
Department of Surgery, Division of Rheumatology, Section of Plastic Surgery, University of Michigan Health System, Ann Arbor, Mich, USA
Plast Reconstr Surg 123:1769-77. 2009..The authors hypothesized that patients with more severe deformities would have worse outcomes after silicone metacarpophalangeal joint arthroplasty...
- [Surgical treatment of hand deformities in multiple enchondromatosis: a case report]Bulent Erol
Department of Orthopedics and Traumatology Ortopedi ve Travmatoloji Anabilim Dali, Medicine Faculty of Marmara University, Istanbul, Turkey
Acta Orthop Traumatol Turc 40:89-93. 2006..During a long-term follow-up (left hand 6 years, right hand 5.5 years) cosmetic and functional results were acceptable...
- Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocationsA Dostal
Center for Neurologic Diseases, Brigham Women Hospital and Harvard Medical School, Boston, MA 02115, USA
Int J Immunogenet 34:143-7. 2007..members show features common to 18q- syndrome such as mental retardation, multiple facial dysmorphism, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including ..
- Hand deformity in Parkinson's disease: case reportEce Aydog
Department of Physical Medicine and Rehabilitation, Social Security Ankara Education Hospital, Dýpkapý Ankara, Turkey
Rheumatol Int 25:548-9. 2005..Typical hand deformities are flexion in metacarpopharyngeal joints and hyperextension in interphalangial joints, sometimes accompanied ..
- Hand reconstruction with allograft demineralized bone: twenty-six implants in twelve patientsJ Upton
Children s Hospital, Harvard Medical School, Boston, Mass
J Hand Surg Am 17:704-13. 1992..Five patients had multiple enchondromas (Ollier's syndrome), five children had congenital hand deformities, and all of these had previously had bone grafts harvested for associated craniofacial reconstructions...
- Patient outcomes following Swanson silastic metacarpophalangeal joint arthroplasty in the rheumatoid hand: a systematic overviewK C Chung
University of Michigan Medical Center and the Department of Veterans Affairs, Ann Arbor, USA
J Rheumatol 27:1395-402. 2000..To investigate the effectiveness of Swanson silastic metacarpophalangeal joint arthroplasty (SMPA) in improving hand function for patients with rheumatoid arthritis...
- Congenital isolated upper limb hypertrophy with hand abnormality--a report of 2 casesL C Teoh
Department of Hand Surgery, Singapore General Hospital, Singapore
J Hand Surg Br 26:492-5. 2001Two cases of congenital isolated hypertrophy of the left upper limb with different hand deformities are described. A 4-year-old girl had splayed fingers and an abducted thumb due to anomalous muscles...
- Proposal of new category for congenital unilateral upper limb muscular hypertrophySemih Takka
Ogori Daiichi General Hospital, 862 3 Shimogo, Ogori cho Yoshiki gun, Yamaguchi ken 754 0002, Japan
Ann Plast Surg 54:97-102. 2005..b>Hand deformities are not due to a part of progression of the disease but result of imbalance of the extrinsic and intrinsic ..
- The utility of Alloderm in hand resurfacingSuRak Eo
Department of Plastic and Reconstructive Surgery, DongGuk University Medical School, South Korea
J Plast Reconstr Aesthet Surg 63:e41-3. 2010..There were 10 traumatic and 1 congenital hand deformities (constriction ring syndrome). The acellular dermis was used as both a dermal filler and as a spacer construct...
- Forked finger fillet flap for segmental extensor tendon coverage of an adjacent digitR Michael Johnson
Miami Valley Hospital, Regional Burn Center, Dayton, Ohio, USA
J Burn Care Res 29:548-50. 2008Finger fillet flaps have been used to treat a variety of complex hand deformities providing stable soft tissue coverage and preventing pathologic contractures...
- The Alara Metriscan phalangeal densitometer: evaluation and triage thresholdsJ A Thorpe
Centre for Metabolic Bone Disease, Hull and East Yorkshire Hospitals NHS Trust, Hull Royal Infirmary, Anlaby Road, Hull HU3 2RW, UK
Br J Radiol 81:778-83. 2008..An additional 10 participants were excluded owing to finger or hand deformities. Radiation exposure to the patient per scan was <0...
- Postoperative hand treatment in children with recessive dystrophic epidermolysis bullosaS A Formsma
Center for Rehabilitation, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
J Hand Ther 21:80-4; quiz 85. 2008..Recessive dystrophic EB is a rare hereditary blistering skin condition, which leads to severe hand deformities. The aim of surgical intervention is to temporarily increase hand function and delay the recurrence of ..
- Flexor origin release and functional prehension in adult spastic hand deformityM S Pinzur
Department of Orthopaedics and Rehabilitation, Loyola University Stritch School of Medicine, Maywood, Illinois
J Hand Surg Br 16:133-6. 1991Eighteen adult patients with spastic hand deformities underwent release of the flexor-pronator origin and step-cut lengthening of the flexor pollicis longus to improve prehensile hand function...
- The long-term outcomes from a randomized controlled trial of an educational-behavioural joint protection programme for people with rheumatoid arthritisA Hammond
Rheumatology Department, Derbyshire Royal Infirmary, London Road, Derby DEI 2QY, UK
Clin Rehabil 18:520-8. 2004..To evaluate the long-term effects of joint protection on health status of people with early rheumatoid arthritis (RA)...
- Brachydactyly type CR C Burgess
Shriners Hospitals for Children Lexington, Lexington, KY 40508, USA
J Hand Surg Am 26:31-9. 2001..The hand deformities of 10 patients with brachydactyly type C are presented to characterize the hand abnormalities in the syndrome ..
- Congenital malformations of the hand. A study of the vascular patternA T Hadidi
Department of Paediatric Surgery, Cairo University, Egypt
J Hand Surg Br 15:171-80. 1990..Angiography is an important and safe investigation in the pre-operative assessment of cases of complex congenital hand deformities.
- Syringomyelia, neuropathic arthropathy and rheumatoid arthritis as diagnostic dilemmas in two different cases: confounding factor and true coexistenceFabricio de Souza Neves
Division of Rheumatology, University of Sao Paulo, Sao Paulo, Brazil
Clin Rheumatol 26:98-100. 2007..Physicians must be aware of this rare condition in the differential diagnosis of wrist and hand deformities.
- Finger prosthesis: the art of reconstructionMarcelo Coelho Goiato
Department of Dentistry Materials and Prosthesis, University of the State of Sao Paulo, Run Jose Bonifacio, 1193 Vila Mendonca, Aricatuba, Sao Paulo, Brazil
J Coll Physicians Surg Pak 19:670-1. 2009b>Hand deformities affect aesthetics function of hand severely compromised and also cause psychological disturbances. This report describes the fabrication of a silicone finger prosthesis for a patient after an accident at work...
- [Musculoskeletal examination: from neonates to adolescents]Pierre Mary
Service d Orthopédie et de Chirurgie Réparatrice de l Enfant, Hopital d Enfants Armand Trousseau, Paris
Rev Prat 56:133-40. 2006..Any physician likely to deal with children should be able to conduct this clinical examination and include some of its elements given its essential role in screening (spinal deformities for instance)...
- Optimizing the correction of severe postburn hand deformities by using aggressive contracture releases and fasciocutaneous free-tissue transfersS H Woo
Department of Plastic and Reconstructive Surgery, Yeungnam University, College of Medicine, Taegu, Korea
Plast Reconstr Surg 107:1-8. 2001Severe postburn hand deformities were classified into three major patterns: hyperextension deformity of the metacarpophalangeal joint of the fingers with dorsal contracture of the hand, adduction contracture of the thumb with ..
- Functional outcomes of children with index pollicizations for thumb deficiencyDavid T Netscher
Department of Orthopedic Surgery and Division of Plastic Surgery, Baylor College of Medicine, Houston, TX 77030, USA
J Hand Surg Am 38:250-7. 2013..Another purpose was to compare the function of the contralateral hand and to compare parent and patient perspectives...
- [Epidermolysis bullosa dystrophica (Hallopeau-Siemens syndrome) of the hand -- surgical strategy and results]J Diedrichson
Klinik für Plastische, Rekonstruktive und Handchirurgie, Johanniterkrankenhaus Bonn
Handchir Mikrochir Plast Chir 37:316-22. 2005..suffer from protein loss, anaemia, secondary infections, oesophageal strictures, malignant transformation and hand deformities. These present as pseudosyndactyly, flexion contractures and, in advanced stages, as a mitten-like deformity...
- Late onset rheumatoid arthritis: clinical and laboratory comparisons with younger onset patientsNuran Turkcapar
Ankara University, School of Medicine, Department of Clinical Immunology and Rheumatology, 06100 Sihhiye, Ankara, Turkey
Arch Gerontol Geriatr 42:225-31. 2006..Wrist, knee and hip involvements were not different in the groups. Classical rheumatoid hand deformities, interstitial lung disease and Sjögren's syndrome (SS) were significantly lower in LORA than in YORA...
- Differences between the United States and the United Kingdom in the treatment of rheumatoid arthritis: analyses from a hand arthroplasty trialKevin C Chung
Department of Surgery, University of Michigan Health System, Ann Arbor, MI 48109 0340, USA
Clin Rheumatol 29:363-7. 2010..There are differences in the demographic characteristics and medication use of RA patients with hand deformities in the US and UK. These differences may be influenced by the private versus socialized health-care systems...
- [Psychological approach to congenital hand deformities. Congenital deformities, the desire to know]A Didierjean-Pillet
Ann Chir Plast Esthet 47:2-8. 2002..This multi-faced issue poses a basic problem for a society, which penalizes physical deformity. Beyond the medical techniques, the subject's ethic has to be considered...
- [From gene to disease; Charcot-Marie-Tooth disease or the hereditary motor and sensory neuropathies]C Verhamme
afd Neurologie, Academisch Medisch Centrum Universiteit van Amsterdam, Postbus 22 660, 1100 DD Amsterdam
Ned Tijdschr Geneeskd 149:1505-9. 2005..Moreover, foot and hand deformities are often encountered...
- Regression analysis of overdispersed correlated count data with subject specific covariatesI L Solis-Trapala
Departamento de Probabilidad y Estadística, Centro de Investigacíon en Matemáticas, Guanajuato, Gto, Mexico
Stat Med 24:2557-75. 2005..Motivated by this study, we generalize our model to accommodate for a subpopulation of patients who are not susceptible to the development of damaged hand joints...
- Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problemsF Malfait
J Med Genet 43:e36. 2006..Homozygous or compound heterozygous COL1A2 mutations resulting in complete deficiency of the proalpha2(I) collagen chains are extremely rare and have been reported in only a few patients, albeit with variable phenotypic outcome...
- A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndromeL Frisén
Department of Molecular Medicine, Karolinska Institutet, Karolinska Hospital, SE 17176 Stockholm, Sweden
J Med Genet 40:e49. 2003
- Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneityB Isidor
Service de Genetique Medicale, Nantes University Hospital, Nantes, France
Am J Med Genet A 146:1593-7. 2008..Molecular analysis failed to identify mutations in NOG and FLNB. SCT is therefore, genetically heterogeneous. Both dominant and autosomal recessive forms of inheritance should be considered during genetic counseling...
- [Orthoses for rheumatic hand deformities]S Rehart
Klinik für Orthopädie und Unfallchirurgie, Markus Krankenhaus, Akademisches Lehrkrankenhaus der Johann Wolfgang Goethe Universität, Wilhelm Epstein Strasse 2, 60431, Frankfurt am Main, Germany
Z Rheumatol 66:376-81. 2007Treatment of rheumatic hand deformities is a very sensitive task, requiring profound knowledge of functional anatomy as well as extensive rheumatologic experience...
- A91: The Development and Initial Evaluation of a Standardised Play Based Hand Assessment Tool for Use in Children and Adolescents: the PizzaPutty™ TestStephanie Leese
Birmingham Children s Hospital, Birmingham, United Kingdom
Arthritis Rheumatol 66:S126. 2014..the PizzaPutty™ test, in a cohort of subjects with a wide range of hand conditions including congenital hand deformities, inherited metabolic diseases and juvenile idiopathic arthritis with evidence of upper limb involvement...
- The added value of measuring thumb and finger strength when comparing strength measurements in hypoplastic thumb patientsH M Ties Molenaar
Department of Plastic and Reconstructive Surgery and Hand Surgery Erasmus MC University Medical Center Rotterdam, The Netherlands Department of Rehabilitation Medicine Erasmus MC, University Medical Center Rotterdam, The Netherlands Electronic address
Clin Biomech (Bristol, Avon) 28:879-85. 2013....
- A medieval casebook: hand cures documented in the Icelandic Sagas of bishopsD C Whaley
University of Newcastle upon Tyne, UK
J Hand Surg Br 19:667-71. 1994..The Sagas of Icelandic bishops composed in and around the 13th century reveal something of the incidence and treatment of various hand conditions in the medieval period. A selection from the relevant material is translated and discussed...
- Hypoplastic thumb in Gorlin's syndromeA Kansal
Diana, Princess of Wales Children s Hospital, Steelhouse Lane, Birmingham, UK
J Plast Reconstr Aesthet Surg 60:440-2. 2007..We present a case in which the patient presented with bilateral thumb hypoplasia. Various hand deformities have been reported in patients with Gorlin's syndrome including short metacarpals, cutaneous syndactyly of ..
- Duplication of the thumb. A 20-year retrospective reviewA Naasan
Department of Plastic and Reconstructive Surgery, Sheffield Children s Hospital, UK
J Hand Surg Br 19:355-60. 1994Thumb duplication is a common congenital abnormality accounting for 6.6% of all hand deformities. The object of the primary surgery is to achieve a thumb with aligned joint surfaces and epiphyses perpendicular to the long axis, central ..
- Surgical management of windblown hand: results and literature reviewK G Ashok Sunil Gavaskar
Mahatma Gandhi Medical College and Research Institute, Pondy Cuddalore Main Road, Pillayarkuppam, Pondicherry, 607 402, India
J Child Orthop 3:109-14. 2009Windblown hand is a congenital anomaly characterized by multiple hand deformities. The condition is extremely rare as shown by the paucity of cases reported in the literature...
- Applying evidence in the care of patients with rheumatoid hand and wrist deformitiesShady A Rehim
Ann Arbor, Mich From the Section of Plastic Surgery, Department of Surgery, University of Michigan Health System and the Section of Plastic Surgery, University of Michigan Medical School
Plast Reconstr Surg 132:885-97. 2013The traditional approach in managing rheumatoid hand deformities is based on the individual surgeon's experiences...
- [Pachydermodactyly]R Kariotis
1 Medizinische Abteilung und Ludwig Boltzmann Institut für Osteologie, Hanusch Krankenhaus, Heinrich Collin Str 30, 1140, Wien, Osterreich
Z Rheumatol 72:482-5. 2013..A specific therapy is unnecessary in most cases but may include intralesional steroid administration or surgical resection. Cessation of mechanical stress can significantly improve pachydermodactyly...
- A rare variant of mirror hand: a case reportS S Yang
Department of Orthopedic Surgery, Lenox Hill Hospital New York, NY 10021, USA
J Hand Surg Am 21:1048-51. 1996..Wrist extension was augmented by transferring the digital extensors from the excised fingers to the radial wrist extensors...
- A systematic review of distraction osteogenesis in hand surgery: what are the benefits, complication rates, and duration of treatment?Steve J Kempton
Madison, Wis From the Division of Plastic and Reconstructive Surgery, University of Wisconsin Hospital and Clinics
Plast Reconstr Surg 133:1120-30. 2014This work analyzes the utility of distraction osteogenesis as a surgical option for the management of acquired and traumatic hand deformities through a systematic review of the published literature.
- Brachydactylia as a phenotypic feature of mitochondrial disorderJosef Finsterer
Krankenanstalt Rudolfstiftung, Vienna, Austria
Acta Med Iran 50:831-5. 2012Mitochondrial disorders (MIDs) may occasionaly go along with dysmorphism but hand deformities, as in the following case, have been only rarely reported...
- Craniosynostosis: A rare complication of pycnodysostosisSara Osimani
Department of Genetics, AP HP Robert DEBRE University Hospital, Paris, France
Eur J Med Genet 53:89-92. 2010..We strongly suggest including systematic examination of fundus oculi and monitoring of OFC in the systematic clinical follow-up of these patients...
- Surgical management of the rheumatoid hand: consensus and controversy among rheumatologists and hand surgeonsAmy K Alderman
Department of Surgery, University of Michigan, Ann Arbor, USA
J Rheumatol 30:1464-72. 2003Rheumatoid arthritis (RA) is a common cause of debilitating hand deformities, but management of these deformities is controversial, characterized by large variations in the surgical rates of common RA hand procedures...
- Visual subunits of the hand: proposed guidelines for revision surgery after flap reconstruction of the traumatized handJames P Higgins
Curtis National Hand Center, Union Memorial Hospital, Baltimore, Maryland 21212, USA
J Reconstr Microsurg 27:551-7. 2011..The visual subunit principle has been implemented in reconstruction of posttraumatic hand deformities. Management initially focused on reestablishment of hand function and provision of soft tissue coverage via ..
- Surgical technique in cadaveric donors for partial hand allotransplant in patients with rheumatoid arthritisM Iglesias
Plastic Surgery Service, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico Distrito Federal, Mexico
Transplant Proc 42:2389-94. 2010For patients with severe hand deformities due to rheumatoid arthritis, we propose an allotransplantation of an osteomyotendinose structure (OMTS), preserving the recipient's skin and sensory nerves...
- Hypoplastic synpolydactyly as a new clinical subgroup of synpolydactylyIlhami Kuru
Orthopedics Department, Medical School of Kocatepe University, Afyon, Turkey
J Hand Surg Br 29:614-20. 2004..We present the clinical, radiological, genetic and surgical findings of the hand deformities found in homozygote individuals which we called "hypoplastic synpolydactyly"...
- [Description of an original conservative method for the surgical management of the Blauth IIIb thumb hypoplasia: "relative lengthening - thumb stabilization"]W Hu
Unité de chirurgie plastique, reconstructrice et esthetique, centre hospitalo universitaire de la Cavale Blanche, Boulevard Tanguy Prigent, 29609 Brest Cedex, France
Ann Chir Plast Esthet 57:342-9. 2012..The whole hypoplastic thumb is lowered in a way that lengthens it relatively. An intentional pseudarthrosis is performed between the first metacarpal base and the second metacarpal diaphysis, creating a "new trapeziometacarpal joint"...
- Brachydactyly and short stature in a kindred with early-onset parkinsonismMarieke C J Dekker
Am J Med Genet A 130:102-4. 2004..Since the bone length reduction was more pronounced in the homozygous parkinsonism patients than in their heterozygous relatives, however, the PARK7 region may contain a modifier gene for growth...
- Current concepts in the management of the rheumatoid handKevin C Chung
Section of Plastic Surgery, Department of Surgery, University of Michigan Health System, Ann Arbor, MI 48109 0340, USA
J Hand Surg Am 36:736-47; quiz 747. 2011..Advances in medical treatments have also decreased the prevalence of hand deformities caused by this disease...
- What's new in hand surgeryPeter C Amadio
Mayo Clinic, Rochester, MN 55905, USA
J Bone Joint Surg Am 85:389-93. 2003
- CLEFT HAND: CLASSIFICATION, INCIDENCE, AND TREATMENT. REVIEW OF THE LITERATURE AND REPORT OF NINETEEN CASESA J Barsky
J Bone Joint Surg Am 46:1707-20. 1964
- Fanconi's anaemia and unilateral thumb polydactyly--don't miss itD J Wilks
Department of Plastic and Reconstructive Surgery, Leeds General Infirmary, Leeds LS1 3EX, United Kingdom
J Plast Reconstr Aesthet Surg 65:1083-6. 2012..This study highlights the link between unilateral radial anomalies, including thumb duplication and FA and the importance of early genetic referral for diagnosis and surveillance...
- Manifestations of hereditary multiple exostosesJonathan R Stieber
Department of Orthopaedic Surgery, Monmouth Medical Center, Long Branch, NJ, USA
J Am Acad Orthop Surg 13:110-20. 2005..For certain deformities, surgery can prevent progression and provide correction. Patients with hereditary multiple exostosis have a slight risk of sarcomatous transformation of the cartilaginous portion of the exostosis...
- A 6-month-old with bilateral swollen, painful, and deformed handsMaureen Curtis Cooper
Pediatric Emergency Department, Boston Medical Center, Boston, MA, USA
J Emerg Nurs 30:384-7. 2004
- Splinting and hand exercise for three common hand deformities in rheumatoid arthritis: a clinical perspectiveBarbara J Porter
Vancouver Coastal Health, Mary Pack Arthritis Program, Vancouver, British Columbia, Canada
Curr Opin Rheumatol 24:215-21. 2012b>Hand deformities (ulnar drift, swan neck and boutonniere) are prevalent in rheumatoid arthritis and develop early in the disease process. These deformities cause significant functional impairment and impact quality of life...
- The abdominal flap using scarred skin in the treatment of postburn hand deformities of severe burn patientsPan Yongwei
Department of Hand Surgery, Jishuitan Hospital, 31 Xinjiekou Dongjie, Beijing 100 035, People s Republic of China
J Hand Surg Am 29:209-15. 2004....
- Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locusE K Bijlsma
Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
Prenat Diagn 25:39-44. 2005..To describe and discuss the clinical, cytogenetic and molecular findings in a fetus with the first prenatally detected interstitial deletion of chromosome 2q...
- Plaster of Paris: the forgotten hand splinting materialJudy C Colditz
HandLab, Division of RHRC, Inc, Raleigh, North Carolina 27608, USA
J Hand Ther 15:144-57. 2002..The use of plaster of Paris to improve postoperative flexor tendon glide is also discussed. This review article intends to stimulate the reader to use plaster of Paris splinting or casting more frequently to solve clinical problems...
- [Surgical treatment of hand deformities in hereditary dystrophic bullous epidermolysis]Ljubomir Panajotović
Vojnomedicinska akademija, Klinika za plasticnu hirurgiju i opekotine, Beograd
Vojnosanit Pregl 60:11-7. 2003..12 male and 6 female, with hereditary dystrophic epidermolysis bullosa (HDEB) and hand deformities were surgically treated, to achieve the complete separation of fingers, correction of the thumb adduction ..
- Differential grey matter changes in sensorimotor cortex related to exceptional fine motor skillsM Cornelia Stoeckel
Department of Systems Neuroscience, University Medical Center Hamburg Eppendorf, Hamburg, Germany
PLoS ONE 7:e51900. 2012..Furthermore, macroscopic structural changes in motor and premotor areas may be observed without respective changes in somatosensory cortex...
- Ulnar lengthening using a half-ring sulcated external fixator for ulnar longitudinal deficiency: a case reportGuang xing Chen
Centre for Joint Surgery, Southwest Hospital, Chongqing, 400038, China
Cell Biochem Biophys 67:809-12. 2013..longitudinal deficiencies (RLD) was found to be successful, no ulnar lengthening for ULD without RLD and hand deformities has been reported...
- Rheumatoid arthritis of the hand: a five-year longitudinal analysis of clinical and radiographic findingsShogo Toyama
Department of Orthopaedics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kajii cho 465, Kamigyo ku, Kyoto, Kyoto, Japan E mail
Mod Rheumatol 24:69-77. 2014..Due to the consequences of functional impairments, we conducted this study to glean more information regarding deformity progression over time...
- Handedness may be related to variations in palmar arterial arches in humansAniruddha Sarkar
Medical College, 88 College Street, Kolkata 700073, West Bengal, India
Singapore Med J 53:409-12. 2012..This cadaver study was conducted to determine any such association...
- Clinical manifestations and treatment for keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome: a study in 25 Japanese patientsYasuyuki Shimada
Oral and Maxillofacial Surgery, Division of Oral Health Sciences, Department of Oral Restitution, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan
J Oral Pathol Med 42:275-80. 2013..This study involved a pooled analysis of Japanese individuals with NBCCS and was performed with the aim of analyzing the clinical features of NBCCS and the patterns of occurrence and recurrence of KCOTs in Japanese individuals...
- An Outcome Study of Rheumatoid Hand ArthroplastyKevin C Chung; Fiscal Year: 2013..by applicant): Rheumatoid arthritis (RA) is a progressive and debilitating disease that often causes hand deformities that impair hand function...
- GENETIC AND MOLECULAR BASIS OF FAMILIAL COLD URTICARIAHarold Hoffman; Fiscal Year: 2002..The achievement of these goals will result in identification of the gene responsible for familial cold urticaria which will ultimately lead to an understanding of the mechanism of the inflammatory response to a physical stimulus. ..
- Novel regulatory role of cryopyrin in inflammationHarold Hoffman; Fiscal Year: 2005..abstract_text> ..
- Roles of TBX3 and its Isoform, TBX3+2a, in Breast CancerTaosheng Huang; Fiscal Year: 2005..By working with both an animal model and tissue acquired from breast surgeries, the proposed research aims to optimize the clinical relevance of the work. ..
- Study on the intracellular Network of TBX3Taosheng Huang; Fiscal Year: 2010..Elucidation of the TBX3- HDAC interaction will deepen our understanding of the functions of TBX3 and may also lead to the identification of a novel therapeutic target for breast cancer. ..