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Pediatric Oculoplastic Surgery pp 3–16Cite as

Genetic Considerations in Oculoplastic Disorders

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Abstract

In this chapter we describe some basic genetic principles in the context of oculoplastic disease. We will review genetics starting from chromosome to protein. We will review the interaction between genes and environment and their involvement together in disease or presentation. We will discuss the relationship between gene and phenotype. We will discuss that not all genetic disorders penetrate each generation, a phenomenon called incomplete penetrance. We will discuss how the same condition in a single family can present with a range of symptoms, a lesson called variable expressivity. We will also review the basic anatomy of the human genome. The bulk of the chapter will then focus on recognizable patterns of inheritance. There are illustrations for quick reference to demonstrate each inheritance type. Each illustration includes a diagram including male and female figurines as well as the more classic Punnett squares. These illustrations will help those unfamiliar with genetics grasp the concepts without detailed reading or further exploration. We also review the different types of genetic testing which are chromosomal- and sequence-based tests. We hope these guidelines will allow appropriate test ordering by the oculoplastic physician.

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Author information

Authors and Affiliations

  1. Pediatrics and Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Elizabeth Bhoj

  2. Individualized Medical Genetics Center, Children’s Hospital of Pennsylvania, Philadelphia, PA, USA

    Emma Bedoukian

  3. Pediatric Ophthalmology, Oculoplastic and Orbital Surgery, Ophthalmology Division, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Lama Khatib

  4. Department of Ophthalmology, Ghent University Hospital, Ghent, East-Flanders, Belgium

    Bart Peter Leroy

  5. Division of Ophthalmology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Bart Peter Leroy

Authors
  1. Elizabeth Bhoj
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  2. Emma Bedoukian
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  3. Lama Khatib
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  4. Bart Peter Leroy
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Corresponding author

Correspondence to Elizabeth Bhoj .

Editor information

Editors and Affiliations

  1. Professor Emeritus of Ophthalmology and Director of Oculoplastic and Orbital Surgery, The Children’s Hospital of Philadelphia and The Edwin and Fannie Gray Hall Center for Human Appearance, Perelman School of Medicine at the University of Pennsylvania , Philadelphia, Pennsylvania, USA

    James A. Katowitz

  2. Associate Professor of Clinical Ophthalmology and Director of the Oculoplastic and Orbital Surgery Fellowship Program, The Children’s Hospital of Philadelphia and The Edwin and Fannie Gray Hall Center for Human Appearance, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA

    William R. Katowitz

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Bhoj, E., Bedoukian, E., Khatib, L., Leroy, B.P. (2018). Genetic Considerations in Oculoplastic Disorders. In: Katowitz, J., Katowitz, W. (eds) Pediatric Oculoplastic Surgery. Springer, Cham. https://doi.org/10.1007/978-3-319-60814-3_1

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  • DOI: https://doi.org/10.1007/978-3-319-60814-3_1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-60812-9

  • Online ISBN: 978-3-319-60814-3

  • eBook Packages: MedicineMedicine (R0)

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