RT Book, Section A1 Bissonnette, Bruno A1 Luginbuehl, Igor A1 Marciniak, Bruno A1 Dalens, Bernard J. SR Print(0) ID 58086331 T1 Schwartz-Jampel Syndrome T2 Syndromes: Rapid Recognition and Perioperative Implications YR 2006 FD 2006 PB The McGraw-Hill Companies PP New York, NY SN 9780071354554 LK accessanesthesiology.mhmedical.com/content.aspx?aid=58086331 RD 2024/10/12 AB A very rare autosomal recessive condition manifested by a combination of muscle stiffness (hypertrophied muscle) and mild, largely nonprogressive muscle weakness (myotonia). Onset age is during the first year of life. Other clinical features include mostly ophthalmological anomalies and a pectus carinatum.