Prenatal diagnosis of Gómez-López-Hernández syndrome.
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DOI: 10.1159/000530643
Abstract: INTRODUCTION Gomez-Lopez-Hernandez Syndrome (GLHS), also known as cerebello-trigeminal-dermal dysplasia is an extremely rare neuro-cutaneous disease, classically described by the triad of rhombencephalosynapsis (RES), bilateral focal alopecia and trigeminal anesthesia. The clinical and radiographic spectrum of… read more here.
Keywords: diagnosis mez; mez pez; diagnosis; pez hern ... See more keywords
Teaching NeuroImages: Trigeminal Ganglia Hypoplasia as Imaging Clue for the Diagnosis of Gómez-López-Hernández Syndrome
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DOI: 10.1212/wnl.0000000000011158
Abstract: A 42-year-old woman presented with ataxia and numbness in her face since childhood. Her parents were nonconsanguineous. Examination showed ataxia, alopecia, absent corneal reflex, and hypoesthesia in right trigeminal territory (figure 1). Brain MRI disclosed… read more here.
Keywords: teaching neuroimages; ndez syndrome; mez pez; hern ndez ... See more keywords
Congenital Hydrocephalus: Gómez-López-Hernández syndrome. An underdiagnosed Syndrome. A clinical case.
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DOI: 10.4067/s0370-41062018000100092
Abstract: INTRODUCTION Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic)… read more here.
Keywords: congenital hydrocephalus; clinical case; pez hern; mez pez ... See more keywords