[Trismus-pseudocamptodactyly syndrome: presentation and genealogy of a new European case].
The trismus pseudocamptodactyly syndrome also called Hecht syndrome or Dutch-Kentucky syndrome is characterized by loss of the ability to fully open the mouth (trismus) and a finger contracture with progressive flexion of the fingers upon extension of the wrist (pseudocamptodactyly). Deformities of the foot may be associated e.g. hammer and claw toes, tightening of the muscles of the posterior part of the leg producing an equinovarus foot. The authors presents two affected individuals from one family from which nine members had some involvement. The expression of the syndrome may vary. The pattern of the finger contracture is specific. The inheritance is autosomal dominant.
D000293:Adolescent; D001530:Belgium; D003286:Contracture / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005385:Fingers; D005532:Foot Deformities, Congenital / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D010375:Pedigree; D013577:Syndrome; D014313:Trismus / Q000235:genetics* / Q000473:pathology
Syndrome trismus et pseudocamptodactylie: présentation et généalogie d'une nouvelle observation européenne.