Schwartz-Jampel syndrome. A case report.
نویسندگان
چکیده
A rare case of Schwartz-Jampel Syndrome is reported. Its main oral and facial manifestations are highlighted.
منابع مشابه
Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report
BACKGROUND Chondrodystrophic myotonia or Schwartz-Jampel syndrome is a rare genetic disorder characterized by myotonia and skeletal dysplasia. It may be progressive in nature. Recently, the gene responsible for Schwartz-Jampel syndrome has been found and the defective protein it encodes leads to abnormal cartilage development and anomalous neuromuscular activity. CASE PRESENTATION We report t...
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This is a report of a very rare case of Schwartz Jampel syndrome, with few unusual findings, in a 13 years girl from Nepal, who concurrently also had superotemporal subluxation of the crystalline lens along with blepharophimosis syndrome.
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Schwartz-Jampel syndrome is a rare, inherited disorder characterized by myotonia, skeletal deformities, facial dysmorphism, and growth retardation. In this report of an adolescent male patient with Schwartz-Jampel syndrome, CT and MR imaging revealed basilar invagination, platybasia, Chiari I malformation, hyperpneumatized mastoids with intramastoid dural sinuses, platyspondyly, bulbous zygoma,...
متن کاملClinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome)
Case Report Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome) Nicola C. Ho, M.D., Stacey Sandusky, B.S., Victor Madike, M.S., Clair A. Francomano, M.D., and Marino C. Dalakas, M.D. 3 Human Genetics & Integrative Medicine Section, LG, NIA, National Institutes of Health, Baltimore, MD Department of Pediatrics, Johns Hopkins Medical Institutions,...
متن کاملOrbicularis Oculi Myectomy as a Treatment for Blepharospasm in a Case of Schwartz Jampel Syndrome
PURPOSE To describe a patient with Schwartz Jampel vel Aberfeld syndrome (SJS) who underwent orbicularis oculi myectomy as a treatment for blepharospasm. CASE REPORT A 4-year-old child with SJS did not respond to an injection of a single dose of botulinum toxin after one month, so orbicularis myectomy was then performed under general anesthesia. During the procedure, orbicularis vermiform mov...
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ورودعنوان ژورنال:
- Indian journal of dental research : official publication of Indian Society for Dental Research
دوره 7 3 شماره
صفحات -
تاریخ انتشار 1996