TY - CHAP M1 - Book, Section TI - Schwartz-Jampel Syndrome A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - A very rare autosomal recessive condition manifested by a combination of muscle stiffness (hypertrophied muscle) and mild, largely nonprogressive muscle weakness (myotonia). Facial dysmorphism, blepharospasm and a puckered chin, short stature and skeletal dysplasia. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/11/07 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164084646 ER -