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Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1921, Komoto reported the first case known today as blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), with the triad of wide set eyes, ectropion, excessive brow hair, and hypoplasia of the caruncle and relatives with similar phenotypic features. Later that year, Dimitry described a family with the above triad and traced the pedigree of “blepharophimosis syndrome,” apparently transmitted in an autosomal dominant manner for the first time. In 1971, Kohn and Komoto (1971) added telecanthus to the triad of this syndrome.

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_26

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_26

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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