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Classification of polydactyly of the foot

Discussion in 'Pediatrics' started by NewsBot, Jun 6, 2013.

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  1. NewsBot

    NewsBot The Admin that posts the news.

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    New classification of polydactyly of the foot on the basis of syndactylism, axis deviation, and metatarsal extent of extra digit.
    Seok HH, Park JU, Kwon ST.
    Arch Plast Surg. 2013 May;40(3):232-7.
     
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  3. NewsBot

    NewsBot The Admin that posts the news.

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    Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases.
    Malik S, Ullah S, Afzal M, Lal K, Haque S.
    Clin Genet. 2013 Jun 17.
     
  4. NewsBot

    NewsBot The Admin that posts the news.

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    The Rotterdam Foot Classification
    A Classification System for Medial Polydactyly of the Foot

    Elise B. Burger, MD; Steven E.R. Hovius, MD, PhD; Bart J. Burger, MD, PhD; Christianne A. van Nieuwenhoven, MD, PhD
    J Bone Joint Surg Am, 2016 Aug 03; 98 (15): 1298 -1306 .
     
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    Foot Function in Patients With Surgically Treated Preaxial Polydactyly of the Foot Compared With Age- and Sex-Matched Healthy Controls
    Elise B. Burger, MD, Shaktie A. Lalé, MD, Steven E. R. Hovius, MD, PhD, ...
    Foot & Ankle International December 20, 2018
     
  6. NewsBot

    NewsBot The Admin that posts the news.

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    Polydactyly of the Foot: A Review
    Derek M Kelly, Karim Mahmoud, Benjamin M Mauck
    J Am Acad Orthop Surg. 2021 Jan 13
     
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    NewsBot The Admin that posts the news.

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    Mid-term foot function and pedobarographic analysis of 52 feet after polydactyly resection in childhood
    Sebastian Farr et al
    Bone Joint J. 2021 Feb;103-B(2):415-420
     
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    NewsBot The Admin that posts the news.

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    Examination of postoperative outcomes using morphological and X-ray classifications and selection of the toe to be excised in post-axial polydactyly of the foot
    Hiroto Saijo, MD, PhD et al
    October 27, 2021
     
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    NewsBot The Admin that posts the news.

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    Quality of life in children with preaxial polydactyly of the foot in comparison to adults, postaxial polydactyly and healthy controls
    Elise Burger et al
    J Pediatr Orthop B. 2022 Sep 20
     
  10. NewsBot

    NewsBot The Admin that posts the news.

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    New Notations for Better Morphological Distinction of Postaxial Polydactyly of the Foot
    Yuka Hirota et al
    Plast Reconstr Surg Glob Open. 2022 Nov 3;10(11):e4504
     
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    Update of surgical treatment of polydactyly
    Yaser Tawfeeq et al
    Curr Opin Pediatr. 2022 Nov 23
     
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    Lower Extremity Polydactyly Does Not Disturb Finding One's Feet
    Tim E. Sluijter, MD et al
    November 09, 2023
     
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    Press release:
    Rare disorder causing extra fingers and toes identified
    A rare disorder which causes babies to be born with extra fingers and toes and a range of birth defects has been identified in new research co-led by the University of Leeds.

    The disorder, which has not yet been named, is caused by a genetic mutation in a gene called MAX. As well as extra digits – polydactyly - it leads to a range of symptoms relating to ongoing brain growth, such as autism.

    The research marks the first time this genetic link has been identified. It has also found a molecule that could potentially be used to treat some of the neurological symptoms and prevent any worsening of their condition. However, more research is needed to test this molecule before it can be used as a treatment.

    Published in the American Journal of Human Genetics, the paper focuses on three individuals with a rare combination of physical traits, namely polydactyly, and a much larger than average head circumference – known as macrocephaly.

    The individuals share some other characteristics, including delayed development of their eyes which results in problems with their vision early in life.

    The researchers compared the DNA of these individuals and found they all carried the shared genetic mutation causing their birth defects.

    The latest research was co-led by Dr James Poulter from the University of Leeds; Dr Pierre Lavigne at Université de Sherbrooke in Québec and Professor Helen Firth at Cambridge University.

    Dr Poulter, UKRI Future Leaders Fellow and University Academic Fellow in Molecular Neuroscience, said: “Currently there are no treatments for these patients. This means that our research into rare conditions is not only important to help us understand them better, but also to identify potential ways to treat them.

    “In this case, we found a drug that is already in clinical trials for another disorder – meaning we could fast track this for these patients if our research finds the drug reverses some of the effects of the mutation.

    “It also means that other patients with a similar combination of features can be tested to see if they have the same variant we have identified in our study.”

    The study team has highlighted the importance of interdisciplinary research into rare diseases in giving understanding and hope of a treatment to families who often face many years of uncertainty about their child’s condition and prognosis.

    Dr Poulter added: “These are often under-represented conditions that have a huge impact on patients and their families. These families go through a long and complex diagnostic odyssey. The time from their first doctor’s visit as babies to getting a diagnosis can take more than 10 years.

    “It is important that these patients and their families discover the cause of their condition – and if they can access a therapy based on their genetic diagnosis, that could be life changing.”

    Dr Lavigne said: “Finding out the impact of the mutation on the function of MAX is the first step towards the development of a treatment for these children.”

    The researchers now plan to look for additional patients with mutations in MAX to better understand the disorder and investigate whether the potential treatment improves the symptoms caused by the mutation.

    The research was carried out in collaboration with the Leeds Teaching Hospitals Trust, the NHS Wales’ All Wales Medical Genomics Service and Radboud University Medical Center, The Netherlands.
     
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