نتایج جستجو برای: jampel syndrome

تعداد نتایج: 621922  

Journal: :Journal of medical genetics 1996
L I Al-Gazali M Varghese E Varady J Al Talabani J Scorer D Bakalinova

Schwartz-Jampel syndrome (SJS) is a heterogeneous autosomal recessive syndrome of myotonia and bone dysplasia. Two types have been recognised: the classical type with late infantile or childhood manifestation and a rarer form with neonatal manifestation. We report five families with a total of 11 children affected with severe neonatal SJS. All presented after birth with skeletal abnormalities a...

2016
Bahram Eshraghi Mahla Shadravan Elham Aalami Elias Khalili Pour

PURPOSE To describe a patient with Schwartz Jampel vel Aberfeld syndrome (SJS) who underwent orbicularis oculi myectomy as a treatment for blepharospasm. CASE REPORT A 4-year-old child with SJS did not respond to an injection of a single dose of botulinum toxin after one month, so orbicularis myectomy was then performed under general anesthesia. During the procedure, orbicularis vermiform mov...

Journal: :Industrial health 2010
Yasuo Haruyama Takashi Muto Hiroe Matsuzuki Akiyoshi Ito Shigeru Tomita Shigeki Muto Takashi Haratani Akihiko Seo Makoto Ayabe Shizuo Katamoto

To elucidate the subjective thermal strain of workers in kitchen working environments, we performed a cross-sectional study involving 991 workers in 126 kitchen facilities in Japan, using a self-reporting questionnaire survey and subjective judgment scales (SJS). The ambient temperature, mean radiant temperature (MRT), and wet-bulb globe temperature (WBGT) index were measured in 10 kitchen faci...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید