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- Title
Anaesthesia recommendations for Schwartz-Jampel syndrome.
- Authors
Godai, Kohei
- Abstract
Disease summary: Schwartz--Jampel syndrome (SJS) is a rare disorder that is characterised by myotonia and skeletal abnormalities. SJS is caused by mutations in the HSPG2 gene encoding the protein perlecan. Myotonia results in a fixed facial expression with blepharophimosis, microstomia, pursed lips and mask-like faces. The typical skeletal and other abnormalities include short stature, kyphoscoliosis, joint contractures, and micrognathia. Tracheal intubation is difficult in these patients because they have micrognathia, cervical kyphoscoliosis, and a limited mouth opening.
- Subjects
ANESTHESIA; GENERAL anesthesia; TREATMENT effectiveness; OSTEOCHONDRODYSPLASIAS; CONDUCTION anesthesia
- Publication
Anaesthesiologie & Intensivmedizin, 2023, Vol 64, p1
- ISSN
0170-5334
- Publication type
Article