Abstract
Cerebello-trigemino-dermal dysplasia or Gomez-López-Hernández syndrome (OMIM 601853) is a sporadic neurocutaneous disorder of unknown aetiology comprising the triad of focal scalp alopecia, trigeminal nerve anaesthesia, and rhombencephalosynapsis (partial or complete). Additional findings include craniosynostosis, symmetrical hypoplasia of the midface and temporal muscles, brachycephaly or turribrachycephaly (high prominent forehead), corneal opacities, hypertelorism, low-set ears, dwarfism, mental retardation, seizures, and behavioural/psychiatric problems. The anatomical alterations, clinical symptoms, diagnostic criteria, and recommendations are reviewed in this chapter.
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Panteliadis, C.P. (2022). Cerebello-Trigemino-Dermal Dysplasia (Gomez-López-Hernández Syndrome). In: Panteliadis, C.P., Benjamin, R., Hagel, C. (eds) Neurocutaneous Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-87893-1_24
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DOI: https://doi.org/10.1007/978-3-030-87893-1_24
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