Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin in sequence in three generations: a new inherited MCA syndrome?
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.
Stoll
C
C
Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France.
Kieny
J R
JR
Dott
B
B
Alembik
Y
Y
Finck
S
S
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