title: Gordon syndrome: literature review and a report of two cases.
abstract: The aim of this article is to publish a literature review and report on two new cases of Gordon syndrome (GS), a rare syndrome documented to have an autosomal dominant inheritance pattern or to occur sporadically; it is characterized by camptodactyly, cleft palate, and talipes equinovarus. We report two exceptional cases of GS where both patients were also diagnosed with congenital myopathy, and one developed malignant hyperthermia. These are the first two cases reported where patients were diagnosed with both GS and congenital myopathy or where GS is associated with malignant hyperthermia.
authors.forename: Sarel J P
authors.initials: SJ
authors.lastname: Botha
authors.forename: Kurt-W
authors.initials: KW
authors.lastname: Bütow
mesh_terms: D001176:Arthrogryposis / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D003025:Clubfoot / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D003937:Diagnosis, Differential; D005260:Female; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn
keywords: Gordon syndrome; arthrogryposis/genetics/physiopathology; camptodactyly-cleft-palate-club foot syndrome; cleft palate; clubfoot; complications; congenital; genetics; hand deformities; physiopathology