Anaesthesia in a child with Schwartz-Jampel syndrome
نویسندگان
چکیده
منابع مشابه
Schwartz-Jampel syndrome.
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.
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 کاملThe Schwartz-Jampel Syndrome. A Minireview
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 pict...
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 کاملWindswept deformity in a patient with Schwartz-Jampel syndrome.
A 13-year-old boy presented with the overall phenotypic and genotypic characterisation of Schwarz-Jampel syndrome (SJS). Windswept deformity was a major orthopaedic abnormality. Prompt diagnostic measures were applied to this patient associated with several orthopaedic procedures to move closer to acceptable appearance and function.
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ژورنال
عنوان ژورنال: Anaesthesia
سال: 2007
ISSN: 0003-2409,1365-2044
DOI: 10.1111/j.1365-2044.1994.tb14229.x