title: Heart-hand syndrome II. A report of Tabatznik syndrome with new findings.
abstract: The association of upper limb malformations and congenital cardiac anomalies was established as a definite clinical and genetic entity by Holt & Oram in 1960. Significant variability of malformations in both the upper limbs and the cardiovascular system has been well documented. In 1978, Temtamy & McKusick reported a family studied by Tabatznik, in which upper limb deformities, including type D brachydactyly, occurred in association with cardiac arrhythmias as a dominant, either autosomal or X-linked trait. They called this apparently new entity "Heart-Hand syndrome II" to distinguish it from the Holt-Oram syndrome. No other similar cases have subsequently been reported. We describe here the second family affected with the Tabatznik syndrome and add some new findings to the clinical spectrum of this condition.
authors.affiliation: Istituto di Discipline Pediatriche, Servizio de Genetiea Clinica, Universita'di Torino, Italy.
authors.forename: M C
authors.initials: MC
authors.lastname: Silengo
authors.forename: M
authors.initials: M
authors.lastname: Biagioli
authors.forename: A
authors.initials: A
authors.lastname: Guala
authors.forename: G
authors.initials: G
authors.lastname: Lopez-Bell
authors.forename: R
authors.initials: R
authors.lastname: Lala
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001145:Arrhythmias, Cardiac / Q000235:genetics; D002348:Carpal Bones / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D003456:Cryptorchidism / Q000235:genetics; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities