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 2024/04/20
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.