File Name: advances in syndactyly research and treatment .zip
Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome syndromic polydactyly or may occur as a separate event non-syndromic polydactyly. Broadly, the non-syndromic polydactyly has been classified into three types, i. Mostly inherited as an autosomal dominant entity with variable penetrance and caused by defects that occur in the anterior-posterior patterning of limb development. In the present review, clinical, genetic and molecular characterization of the polydactyly types has been presented including the recent genes and loci identified for non-syndromic polydactyly. This review provides an overview of the complex genetic mechanism underlie polydactyly and might help in genetic counseling and quick molecular diagnosis. Polydactyly or polydactylism refers to the occurrence of supernumerary digits, toes or any complex duplication of digital parts.
A special issue of Plastic and Aesthetic Research. Plastic and Aesthetic Research parjournal. Navigation Bar Menu. Sign In Submit. Topic: Advances in Microsurgery for Hand Reconstruction.
Syndactyly is a condition well documented in current literature due to it being the most common congenital hand defect, with a large aesthetic and functional significance. There are currently nine types of phenotypically diverse non-syndromic syndactyly, an increase since the original classification by Temtamy and McKusick Non-syndromic syndactyly is inherited as an autosomal dominant trait, although the more severe presenting types and sub types appear to have autosomal recessive and in some cases X-linked hereditary. Gene research has found that these phenotypes appear to not only be one gene specific, although having individual localised loci, but dependant on a wide range of genes and subsequent signalling pathways involved in limb formation. The principal genes so far defined to be involved in congenital syndactyly concern mainly the Zone of Polarizing Activity and Shh pathway. Research into the individual phenotypes appears to complicate classification as new genes are found both linked, and not linked, to each malformation. Consequently anatomical, phenotypical and genotypical classifications can be used, but are variable in significance, depending on the audience.
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It has recently been attempted in the literature to analyze the aesthetic outcomes of syndactyly web space reconstruction utilizing dorsal pentagonal advancement flaps and dorsal rectangular flaps with skin grafting. The study utilized a categorical grading system for evaluating the aesthetic outcomes of reconstruction to be used in conjunction with a visual analog scale VAS , which has yet to be validated in the assessment of aesthetic outcomes following web space reconstruction. To utilize crowdsourced public perceptions to validate the grading of aesthetic outcomes in web space reconstruction for finger syndactyly. A prospective study was conducted of random volunteers recruited through an internet crowdsourcing service to gain responses for a survey to analyze patient opinions toward the aesthetic outcomes of web space reconstruction. Outcomes were graded based on descriptions of the appearance, color, matte, and distortion of the reconstruction.
Polydactyly is a condition in which a person is born with extra fingers or toes. There are several types of polydactyly. Most often the extra digit grows next to the fifth finger or toe. Polydactyly tends to run in families. It may also result from genetic mutations or environmental causes. Polydactyly most often occurs without other abnormalities.
Request PDF | Surgical Treatment of Congenital Syndactyly of the Hand | Syndactyly is a congenital Find, read and cite all the research you need on ResearchGate. Advances in the Molecular Genetics of Non-syndromic Syndactyly.
Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice. Marina C. Gonsales 1.
Syndactyly, webbing of adjacent digits with or without bony fusion, is one of the most common hereditary limb malformations. It occurs either as an isolated abnormality or as a component of more than syndromic anomalies. There are currently nine types of phenotypically diverse nonsyndromic syndactyly.
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