The Association of Carpenter Syndrome and Situs Inversus Totalis: First Case Report

Carpenter syndrome (acrocephalopolysyndactyly type II) is a rare autosomal recessive disorder that classically consists of acrocephaly, facial dysmorphism, mental retardation, congenital heart disease and hypogenitalism. To the best of our knowledge, situs inversus totalis has not been demonstrated previously in Carpenter syndrome. We report here a 6-day-old boy with many abnormalities diagnosed clinically and also having situs inversus totalis. As far as we know, this is the first Carpenter syndrome case associated with situs inversus totalis in the literature.