A recessive form of congenital contractures and torticollis associated with malignant hyperthermia.
Two families are presented, each with two affected sibs, all four of whom seem to have a newly described and specific form of congenital contractures (arthrogryposis). The affected subjects have congenital torticollis, dysmorphic, asymmetrical, myopathic facial features, and progressive scoliosis. Two sibs had cleft palate. Malignant hyperthermia has occurred in two of the patients.
Froster-Iskenius
U G
UG
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Waterson
J R
JR
Hall
J G
JG
D000015:Abnormalities, Multiple / Q000235:genetics*; D001176:Arthrogryposis / Q000235:genetics*; D002675:Child, Preschool; D005146:Facial Asymmetry / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics*; D013577:Syndrome; D014103:Torticollis / Q000235:genetics*