Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome)
نویسندگان
چکیده
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, Baltimore, MD Neuromuscular Diseases Section, NINDS, National Institutes of Health, Bethesda, MD
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...
متن کاملSchwartz-Jampel syndrome (chondrodystrophic myotonia).
Schwartz-Jampel syndrome is a rare autosomal recessive disorder. Joint contractures, generalised myotonia, skeletal anomalies, and facial dysmorphism are common features; malignant hyperthermia is a potentially lethal complication during anaesthesia.
متن کاملCraniocervical CT and MR imaging of Schwartz-Jampel syndrome.
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 کاملGenetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterised by the presence of myotonia with a mask-like face, skeletal dysplasia, and growth retardation. Two types have been defined by the age of manifestation of the symptoms. Linkage of Schwartz-Jampel syndrome to human chromosome 1p34-p36.1 has been shown in families where probands presented during infancy or early ch...
متن کاملSuccessful airway management using a MultiViewScope handle with a stylet scope in a patient with Schwartz–Jampel syndrome
Schwartz-Jampel syndrome (SJS) is a rare disorder characterized by micrognathia, kyphoscoliosis, and myotonia. The greatest challenge in the anesthetic management of patients with SJS is performing tracheal intubation. The MultiViewScope (MVS) is a video laryngoscope system in which the video monitor handle can be attached to a stylet scope, laryngoscope blade, or fiberscope. We report a 21-mon...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2003