Miguel García Ribes

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Chiari disease (or malformation) is in general a congenital condition characterized by an anatomic defect of the base of the skull, in which the cerebellum and brain stem herniate through the foramen magnum into the cervical spinal canal. The onset of Chiari syndrome symptoms usually occurs in the second or third decade (age 25 to 45 years). Symptoms may(More)
Fibrodysplasia ossificans progressiva is one of the most devastating constitutional diseases of the bone, and may be a valid example to establish the role of Primary Care in the care of rare diseases. Although rare diseases usually present with marked anomalies, they can mimic signs and symptoms of common disorders, with the risk of going unnoticed. For(More)
Grupo de trabajo semFYC: Genética clı́nica y enfermedades raras Centro de Salud Nápoles y Sicilia, Valencia, España Centro de Salud, La Palma del Condado, Huelva, España Unidad de Investigación en Epidemiologı́a Genética y Molecular, Departamento de Medicina Preventiva y Salud Pública, Universitat de València, Valencia, España Centro de Atención Primaria,(More)
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