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dysostoses/astènia
L'enllaç es desa al porta-retalls
6 resultats
[A case of cleidocranial dysostosis associated with arachnoid cyst].
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Cleidocranial dysostosis (CCD) is a rare congenital disorder characterized by the heredity, the disturbance of the ossification of the skull and clavicles, and dental anomaly. The entity of CCD was established by Marie and Sainton in 1898. In Japan about 150 cases have been reported since Haneda's
Strabismus in craniofacial dysostosis.
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Ten infants and children who presented with craniofacial dysostosis are discussed; four had Apert's syndrome, four had Crouzon's syndrome, one had Pfeiffer's syndrome, and one had hypertelorism. The follow-up of the patients ranged from 3 months to 7 years, with an average of 19 months. Patients had
Primitive trigeminal artery.
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A 29-year-old woman presented with a near-syncopal event, followed by right-sided weakness and numbness as well as dysarthria. The symptoms resolved over several hours. The patient had a history of migraine and cleidocranial dysostosis. Her work-up was negative for stroke and dissection. Computed
Adult case of acrodysostosis with severe neurologic involvement.
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OBJECTIVE
Acrodysostosis is a rare syndrome characterized by peripheral dysostosis, nasal hypoplasia and frequently mental retardation. Only one adult case of acrodysostosis has been reported to have neurologic symptoms. We report one further adult case of acrodysostosis with severe neurologic
Alpha-mannosidosis.
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Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births. The children are often born apparently normal, and their
Microtia: a microform of hemifacial microsomia.
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An analysis of associated deformities in 74 patients with isolated microtia is reported. Microtia should be considered a microform of hemifacial microsomia because of similar (1) asymmetrical nature of the defects, (2) incidence and pattern of seventh nerve paresis, (3) correlation of the degree of
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