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Syndromes Associated with Syndactyly

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The Pediatric Upper Extremity

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Abstract

Syndactyly is one of the most common upper limb congenital anomalies, occurring either as alone or in association with other abnormalities. Several multiple malformation syndromes where hand and/or foot syndactyly are present have been described in the scientific literature. Sporadic and inherited forms have been identified, and among those that are inherited, new mutations continue to be discovered. The advances in the knowledge of these anomalies, fetal ultrasound screening, and new molecular genetic techniques potentially allow for early diagnosis, although antenatal diagnosis remains infrequent. New genetic mutations and malformations associations continue to present to the clinicians, making the diagnostic process complex and challenging. Syndactyly phenotypes may vary considerably, especially in the syndromic forms, ranging from simple incomplete to complex and complicated types. Treatment of syndromic syndactyly needs to be accurately integrated within a plan tailored on each single patient, due to the coexistence of other associated anomalies whose treatment may take priority over syndactyly.

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Authors and Affiliations

  1. Department of Hand Surgery and Microsurgery, University Hospital Policlinico di Modena, Via del Pozzo 71, 41124, Modena, Italy

    Lorenzo Garagnani

  2. Department of Plastic and Reconstructive Surgery, Great Ormond Street Hospital, W1N 3JH, London, UK

    Gillian D. Smith

Authors
  1. Lorenzo Garagnani
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  2. Gillian D. Smith
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Corresponding author

Correspondence to Lorenzo Garagnani .

Editor information

Editors and Affiliations

  1. Dept. of Orthopedics, U. of Maryland School of Medicine, Timonium, Maryland, USA

    Joshua M. Abzug

  2. Shriners Hospital for Children - Phila., Philadelphia, Pennsylvania, USA

    Scott Kozin

  3. Shriners Hospital For Children - Phila., Philadelphia, Pennsylvania, USA

    Dan A. Zlotolow

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Garagnani, L., Smith, G.D. (2014). Syndromes Associated with Syndactyly. In: Abzug, J., Kozin, S., Zlotolow, D. (eds) The Pediatric Upper Extremity. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-8758-6_14-1

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  • DOI: https://doi.org/10.1007/978-1-4614-8758-6_14-1

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-8758-6

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