ALLMedicine™ Schwartz-jampel Syndrome Center

Feb 18th, 2021 - Management of blepharospasm and blepharophimosis associated with Schwartz-Jampel syndrome.|2021|Ding J,Xu Y,Yuan B,Li D,|

Nov 24th, 2020 - We reported an 8-year-old male patient with Schwartz-Jampel syndrome, severe obstructive sleep apnea, constricted maxilla and moderate tonsillar hypertrophy. The syndrome is characterized by myotonia, skeletal dysplasia, and facial dysmorphism. CP...

Nov 12th, 2019 - Perlecan, a heparan sulfate proteoglycan, acts as a mechanical sensor for bone to detect external loading. Deficiency of perlecan increases the risk of osteoporosis in patients with Schwartz-Jampel Syndrome (SJS) and attenuates loading-induced bon...

Jun 14th, 2018 - Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disease caused by mutations in the gene heparan sulfate proteoglycan 2 (HSPG2; also known as basement membrane‑specific heparin sulfate). In the present study, a 10‑year‑old fema...

Jun 5th, 2018 - Stiffness, Facial Dysmorphism, and Skeletal Abnormalities: Schwartz-Jampel Syndrome 1A.|2018|Padmanabha H,Suthar R,Sankhyan N,Singhi P,|diagnosis,diagnosis,diagnosis,diagnosis,genetics,

Feb 18th, 2021 - Management of blepharospasm and blepharophimosis associated with Schwartz-Jampel syndrome.|2021|Ding J,Xu Y,Yuan B,Li D,|

Nov 24th, 2020 - We reported an 8-year-old male patient with Schwartz-Jampel syndrome, severe obstructive sleep apnea, constricted maxilla and moderate tonsillar hypertrophy. The syndrome is characterized by myotonia, skeletal dysplasia, and facial dysmorphism. CP...

Nov 12th, 2019 - Perlecan, a heparan sulfate proteoglycan, acts as a mechanical sensor for bone to detect external loading. Deficiency of perlecan increases the risk of osteoporosis in patients with Schwartz-Jampel Syndrome (SJS) and attenuates loading-induced bon...

Jun 14th, 2018 - Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disease caused by mutations in the gene heparan sulfate proteoglycan 2 (HSPG2; also known as basement membrane‑specific heparin sulfate). In the present study, a 10‑year‑old fema...

Jun 5th, 2018 - Stiffness, Facial Dysmorphism, and Skeletal Abnormalities: Schwartz-Jampel Syndrome 1A.|2018|Padmanabha H,Suthar R,Sankhyan N,Singhi P,|diagnosis,diagnosis,diagnosis,diagnosis,genetics,