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Gómez–López-Hernández syndrome: reappraisal of the diagnostic criteria

✍ Scribed by Biayna Sukhudyan; Varsine Jaladyan; Gayane Melikyan; Jan Ulrich Schlump; Eugen Boltshauser; Andrea Poretti


Book ID
106122092
Publisher
Springer
Year
2010
Tongue
English
Weight
321 KB
Volume
169
Category
Article
ISSN
0340-6997

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Cerebello-trigeminal-dermal dysplasia (G
✍ Muñoz R., M. Verónica; Santos, Antonio C.; Graziadio, Carla; Pina-Neto, João M. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB 👁 1 views

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