Literature DB >> 3245876

Congenital myopathy with cleft palate and increased susceptibility to malignant hyperthermia: King syndrome?

C R Stewart1, S G Kahler, J M Gilchrist.   

Abstract

Six children of similar ethnic origin with congenital myopathy, cleft palate, malignant hyperthermia (or susceptibility to malignant hyperthermia), and skeletal anomalies are presented. The findings are remarkably consistent among our patients, 3 of whom were related. This syndrome is likely to be inherited as an autosomal recessive trait. Children with this disorder are likely to undergo surgery with general anesthesia for facial or skeletal deformities and should be recognized as predisposed to developing malignant hyperthermia.

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Year:  1988        PMID: 3245876     DOI: 10.1016/0887-8994(88)90086-0

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


  1 in total

1.  Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

Authors:  Aida Telegrafi; Bryn D Webb; Sarah M Robbins; Carlos E Speck-Martins; David FitzPatrick; Leah Fleming; Richard Redett; Andreas Dufke; Gunnar Houge; Jeske J T van Harssel; Alain Verloes; Angela Robles; Irini Manoli; Elizabeth C Engle; Ethylin W Jabs; David Valle; John Carey; Julie E Hoover-Fong; Nara L M Sobreira
Journal:  Am J Med Genet A       Date:  2017-08-04       Impact factor: 2.802

  1 in total

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