title: Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin in sequence in three generations: a new inherited MCA syndrome?
abstract: We observed the combination of the Robin sequence with perodactyly (hypoplasia and/or agenesis of the distal phalanx of the toes) and cardiac arrhythmia (ventricular extrasystoles occurring as bigemini or multifocal tachycardia with syncopal episodes) in 6 relatives in 3 generations. This familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome.
authors.affiliation: Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France.
authors.forename: C
authors.initials: C
authors.lastname: Stoll
authors.forename: J R
authors.initials: JR
authors.lastname: Kieny
authors.forename: B
authors.initials: B
authors.lastname: Dott
authors.forename: Y
authors.initials: Y
authors.lastname: Alembik
authors.forename: S
authors.initials: S
authors.lastname: Finck
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D005117:Cardiac Complexes, Premature / Q000235:genetics*; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006352:Heart Ventricles / Q000503:physiopathology; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D010375:Pedigree; D010855:Pierre Robin Syndrome / Q000235:genetics*; D013577:Syndrome