The King syndrome: malignant hyperthermia, myopathy, and multiple anomalies

Heterogeneity in malignant hyperthermia is being recognized with increasing frequency. In 1973, King described a subgroup of malignant hyperthermia patients with slowly progressive myopathy, short stature, kyphoscoliosis, pectus carinatum, cryptorchidism, and a characteristic facial appearance. Seve...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 8; no. 2; p. 159
Main Authors McPherson, E W, Taylor, Jr, C A
Format Journal Article
LanguageEnglish
Published United States 1981
Subjects
Abnormalities, Multiple - genetics
Adolescent
Child
Creatine Kinase - blood
Female
Humans
Male
Malignant Hyperthermia - genetics
Muscular Diseases - genetics
Pedigree
Syndrome
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Summary:Heterogeneity in malignant hyperthermia is being recognized with increasing frequency. In 1973, King described a subgroup of malignant hyperthermia patients with slowly progressive myopathy, short stature, kyphoscoliosis, pectus carinatum, cryptorchidism, and a characteristic facial appearance. Seven cases have been reported, all in males. We present the case of a girl with similar clinical findings who died in a malignant hyperthermia crisis and review the previously reported cases of King syndrome. The delineation of King syndrome provides further evidence for the heterogeneity of malignant hyperthermia and increases awareness of this disorder; its recognition in a female may lead to preoperative diagnosis and prevention of malignant hyperthermia crisis in King syndrome patients.
ISSN:0148-7299
DOI:10.1002/ajmg.1320080206