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Congenital deformity of the hand

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https://www.readbyqxmd.com/read/29620206/genetic-analysis-of-a-congenital-split%C3%A2-hand-split%C3%A2-foot-malformation-4-pedigree
#1
Xiao Yang, Xinfu Lin, Yaobin Zhu, Jiewei Luo, Genhui Lin
In the present study whole-exome sequencing using the Complete Genomics platform was employed to scan a proband from a split‑hand/split‑foot malformation (SHFM) 4 family. The missense mutation c.728G>A (p.Arg243Gln) in the TP63 gene was revealed to be associated with SHFM. Sanger sequencing confirmed the sequences of the proband and his father. The father was diagnosed with SHFM and harbored a CGG‑to‑CAG mutation in exon 5, which produced a R243Q substitution in the zinc binding site and dimerization site of TP63...
March 29, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29618858/a-comprehensive-functional-classification-of-cleft-hand-the-dast-concept
#2
Alok Sharma, Namita Sharma
Context: Phenotypic expressions of the congenital cleft hand are variable and might baffle even the experienced as to the choice of surgery. The morphological parameters defining the anomaly dictate not only the functional capacity of the anomalous hand but also the degree of possible surgical restoration. Despite a large number of classifying systems available, none encompass all the relevant issues. Aims: The purpose of this work is to present an all-inclusive and universally acceptable classification of the deformity which would graphically represent the entire gamut of possible presentations; principal and associated...
September 2017: Indian Journal of Plastic Surgery: Official Publication of the Association of Plastic Surgeons of India
https://www.readbyqxmd.com/read/29499514/bilateral-split-hand-foot-malformation-in-siblings-case-series
#3
Mohammed Ashi, Rehab Assur, Basim Awan, Hattan Aljaaly
INTRODUCTION: Split Hand-Foot malformation (SHFM) is a congenital limb defect that affects the central rays of the hands and/or feet. It is a rare condition that has genetic and environmental etiologies. It ranges in severity depending on the extent of the malformation. We report on two siblings with severe SHFM affecting all limbs. METHODS: We described two cases of siblings with SHFM and discuss the possible causes of the condition. This research did not require ethical approval due to the institute not requiring it for this type of study...
December 27, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29492320/klippel-feil-syndrome-with-sprengel-deformity-and-extensive-upper-extremity-deformity-a-case-report-and-literature-review
#4
John W Stelzer, Miguel A Flores, Waleed Mohammad, Nathan Esplin, Jonathan J Mayl, Christopher Wasyliw
Introduction: Klippel-Feil syndrome (KFS) is a congenital anomaly resulting from fusion of cervical vertebral bodies secondary to the dysregulation of signaling pathways during somite development. It is commonly associated with scoliosis and Sprengel deformity. We present a case of KFS with commonly associated abnormalities as well as deformities that have not yet been reported in the literature. Case Presentation: A 3-year-old girl presented for further evaluation of a left upper extremity deformity following a negative genetic workup...
2018: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/29409418/soft-tissue-distraction-prior-to-single-bone-forearm-surgery-in-ulnar-longitudinal-deficiency-a-report-of-two-cases
#5
Florian Schachinger, Werner Girsch, Sebastian Farr
Ulnar longitudinal deficiency (ULD) is a rare congenital disease of the upper limb. The deformities caused by ULD can be very challenging and may compromise hand function during daily activities. Although the first surgical intervention dates back to the year 1952 there is still no gold standard for treating this uncommon disorder. Two children aged 16 and 3 years with ULD Bayne Type II (partial ulna aplasia) were diagnosed and treated at our department with single bone forearm surgery to achieve stability and improve function using a modified surgical method...
March 2018: Journal of Hand Surgery Asian-Pacific Volume
https://www.readbyqxmd.com/read/29309292/polydactyly-of-the-hand
#6
Garet C Comer, Michael Potter, Amy L Ladd
Polydactyly is one of the most common congenital hand deformities managed by orthopaedic surgeons. It is most often found in isolation; however, rarely, it may be associated with genetic syndromes. Polydactyly is classified as postaxial, preaxial, or central depending on the radioulnar location of the duplicated digits. Postaxial polydactyly, which affects the ulnar side of the hand, is most common and is typically managed with excision or suture ligation of the supernumerary digit. Preaxial polydactyly, which affects the thumb or radial side of the hand, often requires reconstructive techniques to ensure a functional, stable thumb...
February 1, 2018: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/29175559/desmosterolosis-presenting-with-multiple-congenital-anomalies
#7
Mersedeh Rohanizadegan, Stephanie Sacharow
Desmosterolosis is a rare multiple congenital anomaly syndrome caused by a 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 and wide neck and distal contractures...
March 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29033291/controversies-in-poland-syndrome-alternative-diagnoses-in-patients-with-congenital-pectoral-muscle-deficiency
#8
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...
February 2018: 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
#9
M Umair, A Ullah, S Abbas, F Ahmad, S Basit, W Ahmad
Split-hand/split-foot malformation (SHFM) is a severe form of congenital limb deformity characterized by the absence of 1 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...
March 2018: Clinical Genetics
https://www.readbyqxmd.com/read/28913398/total-femur-arthroplasty-for-revision-hip-failure-in-osteogenesis-imperfecta-limits-of-biology
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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...
November 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
#16
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
#17
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
#18
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
#19
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
#20
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
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