The Schwartz-Jampel Syndrome. A Minireview
نویسنده
چکیده
The Schwartz-Jampel Syndrome (SJS) is a very rare condition characterised by Constant fìndings such as typical facial appearance, muscle hypertrophy and continuous muscle activity. Other fìndings are more or less frequently associated, especially skeletai abnormalities, including dwarfism or anyway short stature. The Authors review thè literature about this condition analysing thè clinical picture, thè recent genetical fìndings, thè electrophysiological and histopathological studies and thè different patogenetical hypothesis.
منابع مشابه
Craniocervical 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 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 کاملClinico-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. A case report.
A rare case of Schwartz-Jampel Syndrome is reported. Its main oral and facial manifestations are highlighted.
متن کامل