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Familial syringomyelia: a report of four cases. 1977

T Caraceni, and P Giovannini

The clinical and neurological features of four siblings (2 male, 2 female) affected by syringomyelia are described. A fifth sister was affected by an acoustic neurinoma. Since neither parent showed signs of syringomyelia, this is considered to be a datum substantiating the dysembryogenetic theory of the syringomyelia syndrome.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009192 Myelography X-ray visualization of the spinal cord following injection of contrast medium into the spinal arachnoid space. Cisternography, Myelographic,Myelographic Cisternography,Cisternographies, Myelographic,Myelographic Cisternographies,Myelographies
D009460 Neurologic Examination Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system. Examination, Neurologic,Neurological Examination,Examination, Neurological,Examinations, Neurologic,Examinations, Neurological,Neurologic Examinations,Neurological Examinations
D011011 Pneumoencephalography Radiographic visualization of the cerebral ventricles by injection of air or other gas. Cisternography, Pneumoencephalographic,Pneumoencephalographic Cisternography,Cisternographies, Pneumoencephalographic,Pneumoencephalographic Cisternographies,Pneumoencephalographies
D003951 Diagnostic Errors Incorrect or incomplete diagnoses following clinical or technical diagnostic procedures. Diagnostic Blind Spots,Errors, Diagnostic,Misdiagnosis,Blind Spot, Diagnostic,Blind Spots, Diagnostic,Diagnostic Blind Spot,Diagnostic Error,Error, Diagnostic,Misdiagnoses
D004576 Electromyography Recording of the changes in electric potential of muscle by means of surface or needle electrodes. Electromyogram,Surface Electromyography,Electromyograms,Electromyographies,Electromyographies, Surface,Electromyography, Surface,Surface Electromyographies
D005260 Female Females
D005539 Foramen Magnum The large hole at the base of the skull through which the SPINAL CORD passes. Foramen Magnums,Magnum, Foramen,Magnums, Foramen
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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