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10.4103/2277-9175.162538 http://scihub22266oqcxt.onion/10.4103/2277-9175.162538 C4581134!4581134!26436077     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Adv+Biomed+Res 2015 ; 4 (ä): ä Nephropedia Template TP {{tp|p=26436077|t=2015. The Schwartz-Jampel syndrome: Case report and review of literature |pdf=|usr=}}{{26436077}} gab.com Text The Schwartz-Jampel syndrome: Case report and review of literature JO: Adv Biomed Res http://www.kidney.de/pget.php?&tw=1&pmid=26436077 #FOAvip Schwartz-Jampel syndrome (SJS), first described in the United States in 1962, is a hereditary disorder characterized by facial dysmorphism and muscle stiffness. We describe the first case of a Persian 9-year-old boy with SJS and review the literature. The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature, and skeletal deformities. He had proximal muscle hypertrophy, distal muscle wasting and generalized hyporeflexia. Bone X-ray revealed pseudofracture of humerus. Needle electromyography revealed continuous myotonic discharges at rest with no waxing and waning in all tested muscles. Based on clinical and electrodiagnostic findings, the diagnosis of SJS type 1B was made and procainamide was started which resulted in clinical improvement. The diagnosis of SJS should be suspected when a child presents with the triad of myotonia, facial dysmorphism and skeletal deformities. Twit Text FOAVip The Schwartz-Jampel syndrome: Case report and review of literature ????Adv Biomed Res http://www.kidney.de/pget.php?&tw=1&pmid=26436077 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26436077 #FOAvip English Wikipedia <ref>{{Cite pmid|26436077}}</ref> The Schwartz-Jampel syndrome: Case report and review of literature #MMPMID26436077 Basiri K; Fatehi F; Katirji B Adv Biomed Res 2015[]; 4 (ä): ä PMID26436077show ga Schwartz-Jampel syndrome (SJS), first described in the United States in 1962, is a hereditary disorder characterized by facial dysmorphism and muscle stiffness. We describe the first case of a Persian 9-year-old boy with SJS and review the literature. The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature, and skeletal deformities. He had proximal muscle hypertrophy, distal muscle wasting and generalized hyporeflexia. Bone X-ray revealed pseudofracture of humerus. Needle electromyography revealed continuous myotonic discharges at rest with no waxing and waning in all tested muscles. Based on clinical and electrodiagnostic findings, the diagnosis of SJS type 1B was made and procainamide was started which resulted in clinical improvement. The diagnosis of SJS should be suspected when a child presents with the triad of myotonia, facial dysmorphism and skeletal deformities. äThe Schwartz-Jampel syndrome: Case report and review of literature (epmc).pdf DeepDyve Pubget Overpricing