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Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature

✍ Scribed by Alberto Fernández-Jaén; Daniel Martín Fernández-Mayoralas; Beatriz Calleja-Pérez; Nuria Muñoz-Jareño; Noelia Moreno


Book ID
116825455
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
256 KB
Volume
40
Category
Article
ISSN
0887-8994

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## Abstract Gomez‐Lopez‐Hernandez syndrome, or cerebello‐trigeminal‐dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto‐occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, short stature, and craniofacial anomalies.

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Cerebello-trigemino-dermal "dysplasia" is a rare neurocutaneous syndrome of craniosynostosis, ataxia, trigeminal anesthesia, scalp alopecia, cerebellar anomaly, midface hypoplasia, corneal opacities, apparently low-set ears, mental retardation, and short stature. It seems to be a sporadic condition