Stiffness, Facial Dysmorphism, and Skeletal Abnormalities: Schwartz-Jampel Syndrome 1A
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: report of five cases.
We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its different clinical forms. Two cases presented SJS-type 1A, two had SJS-type 1B and one manifested SJS-type 2. Two boys with 3 and 13 years of age ...
متن کاملSchwartz-Jampel syndrome. A case report.
A rare case of Schwartz-Jampel Syndrome is reported. Its main oral and facial manifestations are highlighted.
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ژورنال
عنوان ژورنال: The Journal of Pediatrics
سال: 2018
ISSN: 0022-3476
DOI: 10.1016/j.jpeds.2018.04.077