Situs inversus totalis, renal and pancreatic dysplasia, and cysts as an autosomal recessive new entity?

To the Editor:

The letter “Atrioventricular canal defect in Bardet-Biedl syndrome: Clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction”¹ presents a summary of “syndromes associating atrioventricular canal defect (AVCD) and postaxial polydactyly” in Table 1.

The authors stated, “dextrocardia in the setting of situs inversus has been described in Meckel syndrome and Meckel-like syndrome.” To support this statement, the authors cited our article.² However, we would like to point out that in this study² and in our previous related study,³ the features described did not include polydactyly. This syndrome is therefore not a “Meckel-like syndrome.”

The syndrome we described^2,3 is autosomal recessive and is characterized by situs inversus totalis, polycystic kidney and pancreas, oligohydramnios, and bowing of the lower extremities. Furthermore, the syndrome is distinct from Ivemark syndrome because there were no hepatic cysts.