Abstract
Cerebello-trigeminal dermal (CTD) dysplasia (OMIM # 601853) (OMIM 2006) is an uncommon congenital disorder of the cerebellum, trigeminal nerves, cranial sutures and scalp (Muñoz et al. 2004). Clinically, CTD dysplasia is characterised by craniosynostosis, parieto-occipital scalp alopecia, trigeminal nerve anaesthesia, short stature, cerebellar abnormalities (usually of the rhombencephalosynapsis/RES type), ataxia and intellectual impairment (Brocks et al. 2000; Gomez 1979, 1987; Gomy et al. 2008; Lopez- Hernandez 1982; Munoz et al. 1997, 2004; Pascual- Castroviejo 1983; Poretti et al. 2008; Schell-Apacik et al. 2007; Tan et al. 2005).
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Keywords
- Trigeminal Nerve
- Cranial Suture
- Central Nervous System Anomaly
- Cerebellar Dentate Nucleus
- Acid Phosphatase Gene
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Pascual-Castroviejo, I., Ruggieri, M. (2008). Cerebello-Trigeminal Dermal Dysplasia (Gomez-Lopez-Hernandez Syndrome). In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_62
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