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Gomez-López-Hernandez syndrome: the triad of cerebello-trigemino-dermal dysplasia
- Source :
- BMJ case reports. 14(10)
- Publication Year :
- 2023
-
Abstract
- A 14-year-old female presented with progressive diminution of vision in the right eye. She had left-sided loss of vision since 1 year of age. The patient had aggressive behaviour with irrelevant talking. She was intellectually disabled and had a history of delayed motor and language milestones. On
- Subjects :
- genetic structures
business.industry
Neurocutaneous Syndromes
Alopecia
General Medicine
Anatomy
medicine.disease
Magnetic Resonance Imaging
eye diseases
Craniofacial Abnormalities
Rhombencephalon
Triad (sociology)
Gomez Lopez Hernandez syndrome
Dysplasia
Cerebellum
medicine
Humans
Abnormalities, Multiple
business
Growth Disorders
Subjects
Details
- ISSN :
- 1757790X
- Volume :
- 14
- Issue :
- 10
- Database :
- OpenAIRE
- Journal :
- BMJ case reports
- Accession number :
- edsair.doi.dedup.....6ace0d2f7a8da7b6a04aba638222b4f2