dysostoses/asthenia

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

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

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

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 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

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