1. Based on our results, we propose that OFDS II can be further split to include an orocardiodigital syndrome with hamartoma of the tongue, polysyndactyly of the hands and feet, and CHD, namely AVC. It is well known that AVC occurs as an isolated malformation, but can be associated with non-cardiac anomalies. Although it is occasionally found in children with various aneuploidies and mendelian syndromes, a non-random association of AVC has been noted with specific genetic conditions, including trisomy 21,'4 deletion 8p,'5 3C syndrome,'6 and Noonan syndrome."' In addition, AVC is commonly observed in patients with heterotaxia'5 and Ellis-van Creveld syndrome.1920 In particular, children with Ellisvan Creveld syndrome present a type of AVC consisting of a single atrium and partial AVC similar to that reported in the present case and in patients with OFDS II (table 2). Interestingly, AVC is also found in another syndrome with polydactyly of the hands and feet, the Kaufman-McKusick syndrome.2
2. In conclusion, although CHD is not common in OFDS, the existence of a subtype with cardiac involvement is emerging from personal observation and previously reported patients. This orocardiodigital syndrome showing a high frequency of AVC suggests a non-random association of this pattern of malformations. In addition, a specific link between AVC and genetic syndromes with polydactyly is suspected
3. Oral-facial-digital syndromes;Toriello, H.V.;Clin Dysmorphol,1992
4. Genetic and clinical heterogeneity in the oral-facial-digital syndromes;Rimoin, D.; Edgerton, M.;Pediatr,1967
5. Heart malformation as a feature of the Mohr syndrome;Cordero, J.F.; Holmes, L.B.;Pediatr,1977