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Holoprosencephalies and Related Entities

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Pediatric Neuroradiology

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Abstract

Holoprosencephaly (HPE) is the most common forebrain defect in humans, with a prevalence of 1:250 in embryos (Edison R, Muenke M. Congenit Anom (Kyoto) 43:1–21, 2003) and approximately 1:10,000 among live-born infants (Matsunaga E, Shiota K. Teratology 16:261–272, 1977; Leoncini et al., Birth Defects Res A Clin Mol Teratol 82:585–591, 2008). Defects of the ventral prosencephalon development encompass a wide spectrum of malformations with variable clinical severity. Here, we address the imaging findings of HPE and related disorders, including the clinical, epidemiologic, pathologic, and genetic features that help to understand these conditions and contribute meaningfully to their diagnosis.

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  1. Neuroradiology Unit IRCCS Istituto Giannina Gaslini, Genoa, Italy

    Domenico Tortora, Mariasavina Severino & Andrea Rossi

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  1. Domenico Tortora
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  2. Mariasavina Severino
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  3. Andrea Rossi
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Correspondence to Domenico Tortora .

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  1. Department of Neuroradiology, G Gaslini Children's Hospital, Genoa, Italy

    Andrea Rossi

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Tortora, D., Severino, M., Rossi, A. (2021). Holoprosencephalies and Related Entities. In: Rossi, A. (eds) Pediatric Neuroradiology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-46258-4_5-1

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