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Syndromes Associated with Pectus Deformities

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Chest Wall Deformities

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Abstract

Pectus deformities involve pectus excavatum (PE), pectus carinatum (PC) and cleft sternum which can be isolated malformations, which generally occur sporadic or represent one feature or dysmorphic syndromes of an underlying genetic syndrome. Because of a possible association with a genetic syndrome, it is paramount that every patient with a chest wall deformity undergoes thorough examinations for additional symptoms of the skeleton or organs before correction of the chest wall deformity is planned to avoid postoperative morbidity and mortality. In case of suspicion of an apparent genetic syndrome, it is important to refer the patient for genetic counselling. When the genetic investigations confirm the syndromic diagnosis, further emphasis is set on evaluating the recurrence risk for a patient’s siblings and offsprings.

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Authors and Affiliations

  1. Department for Pediatric Surgery, Medical University of Graz, Austria, Auenbruggerplatz 34, 8036, Graz, Austria

    Eva E. Amerstorfer MD

  2. Consultant Pediatric Surgeon, Chelsea Children’s Hospital, Chelsea and Westminster Hospital NHS Foundation Trust, Imperial College London, London, UK

    Amulya K. Saxena MD, PhD, DSc(hon), FRCS(Glasg)

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  1. Eva E. Amerstorfer MD
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  2. Amulya K. Saxena MD, PhD, DSc(hon), FRCS(Glasg)
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Correspondence to Eva E. Amerstorfer MD .

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Editors and Affiliations

  1. Consultant Pediatric Surgeon Chelsea Children’s Hospital, Chelsea and Westminster Hospital NHS Foundation Trust Imperial College London, London, United Kingdom

    Amulya K. Saxena

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Amerstorfer, E.E., Saxena, A.K. (2017). Syndromes Associated with Pectus Deformities. In: Saxena, A. (eds) Chest Wall Deformities. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-53088-7_8

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  • DOI: https://doi.org/10.1007/978-3-662-53088-7_8

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