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Congenital deformity of the hand

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https://www.readbyqxmd.com/read/29175559/desmosterolosis-presenting-with-multiple-congenital-anomalies
#1
Mersedeh Rohanizadegan, Stephanie Sacharow
Desmosterolosis is a rare multiple congenital anomaly syndrome caused by defect in the enzyme 3-beta-hydroxysterol delta-24-reductase (DHCR24) in the cholesterol biosynthesis pathway. Defects in this enzyme cause increased level of the cholesterol precursor desmosterol while disrupting development of cholesterol, impacting embryogenesis. A total of 9 cases of desmosterolosis have been reported to date. We report a 20-month-old male from consanguineous parents with multiple congenital anomalies including corpus callosum hypoplasia, facial dysmorphism, cleft palate, pectus deformity, short, wide neck and distal contractures...
November 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29033291/controversies-in-poland-syndrome-alternative-diagnoses-in-patients-with-congenital-pectoral-muscle-deficiency
#2
Martijn Baas, Elise B Burger, Dimitri Sneiders, Robert-Jan H Galjaard, Steven E R Hovius, Christianne A van Nieuwenhoven
PURPOSE: Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency. The aim of this review is to illustrate the diversity of the phenotypic spectrum of Poland syndrome and to create more awareness for alternative diagnoses in pectoral muscle deficiency...
October 13, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29023680/first-direct-evidence-of-involvement-of-a-homozygous-loss-of-function-variant-in-the-eps15l1-gene-underlying-split-hand-split-foot-malformation
#3
Muhammad Umair, Asmat Ullah, Safdar Abbas, Farooq Ahmad, Sulman Basit, Wasim Ahmad
Split-hand/split-foot malformation (SHFM) is a severe form of congenital limb deformity characterized by the absence of one or more digits and/or variable degree of median clefts of hands and feet. The present study describes an investigation of a consanguineous family of Pakistani origin segregating SHFM in an autosomal recessive manner. Human genome scan using SNP markers followed by whole exome sequencing revealed a frameshift deletion (c.409delA, p.Ser137Alafs*19) in the EPS15L1 gene located on chromosome 19p13...
October 10, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28913398/total-femur-arthroplasty-for-revision-hip-failure-in-osteogenesis-imperfecta-limits-of-biology
#4
Pablo Sanz-Ruiz, Manuel Villanueva-Martinez, Jose Antonio Calvo-Haro, Esther Carbó-Laso, Javier Vaquero-Martín
Osteogenesis imperfecta (OI) is a rare congenital disease characterized by alterations in bone quality, with susceptibility to fractures, instability, deformities, and osteoarthrosis. Prosthetic surgery in these patients is associated with an abnormally high rate of implant failures. On the other hand, abnormal bone fragility adds to the complexity of revision surgery in such individuals-thus representing a genuine challenge for the orthopaedic surgeon. We present a case of femoral reconstruction in a patient with OI and prosthetic loosening after reconstruction secondary to femoral septic pseudoarthrosis...
September 2017: Arthroplasty Today
https://www.readbyqxmd.com/read/28865596/percutaneous-foot-surgery-for-the-treatment-of-brachymetatarsia-a-case-report
#5
Gonzalo Concheiro Barreiro, Arantza Gadañón García, Jose María Giráldez Domínguez
BACKGROUND: The term brachimetatarsia refers to an abnormal shortening of the metatarsal bones as a result of early closure of the growth plate. The deformity, which may be congenital, idiopathic or secondary to surgery or trauma, may result in functional as well as cosmetic alterations, which require correction by an orthopedic surgeon. The purpose of this report is to illustrate the possibility of treating this condition by means of a minimally invasive technique which affords results as satisfactory as those of conventional techniques but with fewer complications...
September 2017: Foot and Ankle Surgery: Official Journal of the European Society of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28864264/a-self-reported-needs-assessment-survey-of-pediatric-orthopaedic-education-in-haiti
#6
Rameez A Qudsi, Heather J Roberts, Abhiram R Bhashyam, Elena Losina, Donald S Bae, Francel Alexis, George S Dyer
OBJECTIVE: The burden of musculoskeletal disease remains high in low-income countries, with a high rate of pediatric disease. Efforts continue for orthopedic education, but there is little guidance on local needs and desires. Our aim was to determine the specific content and modalities that would be most useful for pediatric orthopedic educational programs abroad, and we demonstrate a practical method of identifying country-specific educational deficits through a self-reported needs survey in Haiti...
August 29, 2017: Journal of Surgical Education
https://www.readbyqxmd.com/read/28840051/split-hand-malformation-in-a-4-year-old-child
#7
Girish Gulab Meshram, Kanwaljeet Singh Hura, Neeraj Kaur
Split-hand deformity is one of the milder manifestations of a congenital disorder called split-hand/split-foot malformation. We present a case of a 4-year-old child with split-hand malformation in his left hand since birth. A median cleft was present in the affected hand with absence of the 3rd and 4th digits, giving rise to a characteristic lobster-claw appearance. Functionality of the affected hand was modestly impaired. As none of the close family members of the patient had similar limb malformations, the deformity was postulated to arise most likely from a de novo mutation...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28811814/apert-syndrome-report-of-a-rare-congenital-malformation
#8
Ehsan Rathore, Altaf Hussain Rathore
A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adjusted in the society though he has all the stigmas of the above syndrome. We have concluded and made a point that in the adult sufferer, facial deformity is not so important and urgent for the treatment than syndactyly, which handicaps the sufferer in performing the daily routine work...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28693936/sirenomelia-associated-with-discoid-adrenal-and-lumbar-meningocoele-an-autopsy-report
#9
Nelofar Islam, Bappa Mandal, Ram Narayan Das, Goutam Bera, Suchandra Mukherjee, Uttara Chatterjee
Mermaid syndrome or Sirenomelia is a rare congenital deformity in which the legs are fused and bears resemblance to mermaid's tail. It carries a poor prognosis, due to associated urogenital and gastrointestinal abnormalities. An early antenatal diagnosis using Magnetic Resonance Imaging (MRI) can help in termination of pregnancy. Embryologically, it is considered as the extreme form of caudal regression syndrome due to the persistence of vitelline artery. Here, we report a case of Sirenomelia associated with bilateral renal agenesis along with the rare findings of discoid adrenal, lumbar meningocoele and abnormalities of the hand...
June 17, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28675976/post-osteomyelitic-acquired-radial-club-hand-deformity-in-children-treated-by-centralization-of-ulna
#10
Dinesh Kumar Meena
INTRODUCTION: Radial club hand deformity acquired post haematogenous osteomyelitis of radius bone is a very rare disease. Resulting in functional and cosmetic deficit of upper limb which is similar to congenital cases. For a long-time various surgeons attempted to reconstruct the deformity by bone grafting, plating, Ilizarov, monorail external fixator, callus distraction and so on. Keeping in mind that creating single bone forearm we proposed centralization of ulna on wrist to correct the deformity...
May 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28603568/current-concepts-in-radial-club-hand
#11
Takehiko Takagi, Atsuhito Seki, Shinichiro Takayama, Masahiko Watanabe
Radial club hand is a complex congenital abnormality of the radial or pre-axial border of the upper extremity. It has a wide range of phenotypes from hypoplasia of the thumb to complete absence of the radius and the first ray. Centralization with tendon transfer is a popular method for maintaining the correct position of radial club hand. On the other hand, various corrections were devised, e.g. radialization after distraction to emphasize the fact that the head of the ulna is positioned under the radial carpal bones and is no longer placed in a slot in the center of the carpus, microvascular epiphysis transfer, gradual correction using Ilizarov method, for Bayne Type III or Type IV...
2017: Open Orthopaedics Journal
https://www.readbyqxmd.com/read/28579036/analysis-of-surgical-results-and-of-residual-postoperative-deformities-in-preaxial-polydactyly-of-the-hand
#12
Carlos Eduardo Fagotti de Almeida
PURPOSE: Polydactyly is the most common congenital anomaly of the hand. It may occur as a separate event or as part of a syndrome, with preaxial polydactyly of the hand (or thumb duplication) being the most common among Caucasians. The present study analyzed the surgical results and the residual postoperative deformities of patients with thumb duplication. METHODS: Thirty-one patients with duplicated thumbs were surgically treated from January 2002 to April 2008 and 19 of them, who had returned during the late postoperative period, were evaluated...
October 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28488459/classification-of-congenital-anomalies-of-the-hand-and-upper-limb
#13
M A Tonkin
The Oberg, Manske, Tonkin Classification of congenital anomalies of the hand and upper limb utilizes dysmorphological concepts to distinguish Malformations from Deformations and Dysplasias. Malformations are abnormalities of Formation and/or Differentiation of tissues. Deformations are abnormalities which occur after tissue is formed. Dysplasias are abnormalities which result from a lack of normal organization of cells into tissue. Malformations are sub-grouped according to whether the abnormality affects the hand alone or the whole of the upper limb; and according to which, if any, of the three main axes of development are primarily involved...
June 2017: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/28450991/-poland-syndrome-about-a-case-and-review-of-the-literature
#14
REVIEW
Meriam Benzalim, Laila Berghalout, Sophia Elfakir, Hicham Jalal
Poland syndrome is a rare congenital malformation associated with various degrees of thoracic and homolateral upper limb abnormalities. We report the case of a 7-year old girl who underwent exploration for depression of the left hemithorax associated with homolateral subclavicular mass. CT scan showed that the deformation of the thoracic wall was related to the absence of left pectoralis major muscle sterno-costal heads insertion associated with agenesis of the pectoralis minor muscle and hypoplasia of the anterior arches of the first six corresponding ribs...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28443277/pediatric-hand-surgery-training-in-nicaragua-a-sustainable-model-of-surgical-education-in-a-resource-poor-environment
#15
Mary Claire B Manske, Jairo J Rios Roque, Gabriel Ramos Zelaya, Michelle A James
Recent reports have demonstrated that nearly two-thirds of the world's population do not have access to adequate surgical care, a burden that is borne disproportionately by residents of resource-poor countries. Although the reasons for limited access to surgical care are complex and multi-factorial, among the most substantial barriers is the lack of trained surgical providers. This is particularly true in surgical subspecialties that focus on life-improving, rather than life-saving, treatments, such as pediatric hand and upper extremity surgery, which manages such conditions as congenital malformations, trauma and post-traumatic deformities including burns, and neuromuscular conditions (brachial plexus birth palsy, spinal cord injury, and cerebral palsy)...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28390109/vascularized-composite-allograft-donation-and-transplantation-a-survey-of-public-attitudes-in-the-united-states
#16
J R Rodrigue, D Tomich, A Fleishman, A K Glazier
Vascularized composite allograft (VCA) transplantation has emerged as a groundbreaking surgical intervention to return identity and function following traumatic injury, congenital deformity, or disfigurement. While public attitudes toward traditional organ/tissue donation are favorable, little is known about attitudes toward VCA donation and transplantation. A survey was conducted of 1485 U.S. residents in August 2016 to assess VCA donation attitudes. Participants also completed the Revised Health Care System Distrust Scale...
October 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28363676/variable-operative-experience-in-hand-surgery-for-plastic-surgery-residents
#17
Jason Silvestre, Ines C Lin, Lawrence Scott Levin, Benjamin Chang
BACKGROUND: Efforts to standardize hand surgery training during plastic surgery residency remain challenging. We analyze the variability of operative hand experience at U.S. plastic surgery residency programs. METHODS: Operative case logs of chief residents in accredited U.S. plastic surgery residency programs were analyzed (2011-2015). Trends in fold differences of hand surgery case volume between the 10th and 90th percentiles of residents were assessed graphically...
July 2017: Journal of Surgical Education
https://www.readbyqxmd.com/read/28267910/-surgical-management-of-spinal-deformity-in-a-patient-with-escobar-syndrome-review-of-the-literature
#18
M C Hernández-Hernández, J A Canales-Nájera, J S De La Cruz-Álvarez, M E Tena-Zanabria, J Matus-Jiménez
BACKGROUND: The non-lethal variant of the Escobar or multiple pterygium syndrome is an entity of autosomal recessive inheritance linked to the X chromosome; it is characterized by multiple pterygia (hence its name) located mainly in the neck (95%) and armpits (55%), as well as other orthopedic malformations such as a vertical talus, congenital hip dislocation, and congenital scoliosis. OBJECTIVE: To present an optional surgical technique for the management of severe spinal deformities...
July 2016: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/28266297/surgical-treatment-of-a-rare-reverse-madelung-deformity-in-11-years-female-patient
#19
Alexandru Ulici, Daniel Catalin Florea, Iulia Tevanov, Dan Zaharie, Madalina Carp
Madelung deformity is an abnormality of the distal part of the forearm due to a growth arrest in the distal radial physis creating an increase of the radial tilt angle associated with a dorsal subluxation of the distal ulna in most cases. It is a rare condition which represents only 1.7% of hand deformities being characterized by the presence of an abnormal structure, Vickers ligament, that tethers the distal radius to the lunate bone. Although it is believed to be a congenital disorder, the symptoms are absent till late childhood...
January 2017: Chirurgia
https://www.readbyqxmd.com/read/28149203/presentation-and-treatment-of-poland-anomaly
#20
REVIEW
Joseph A Buckwalter V, Apurva S Shah
Background: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral pectoral muscle agenesis and ipsilateral hand deformity. Methods: A comprehensive review of the medical literature on Poland anomaly was performed using a Medline search. Results: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral, simple syndactyly with ipsilateral limb hypoplasia and pectoralis muscle agenesis. Operative management of syndactyly in Poland anomaly is determined by the severity of hand involvement and the resulting anatomical dysfunction...
December 2016: Hand: Official Journal of the American Association for Hand Surgery
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