Camera-Marugo-Cohen Syndrome

Lambert et al. (1999) described the cases of 2 unrelated patients with obesity, mental retardation, body asymmetry, and muscle weakness. Retrognathia, truncal obesity, and camptodactyly were illustrated. Both patients showed somewhat similar changes in the feet with syndactyly and deviation of the big toes. Mild blepharoptosis was present in the first case; blepharoptosis requiring surgical correction was present in the second case. Lambert et al. (1999) concluded that these patients suffered from the same condition as that reported by Camera et al. (1993). However, Lambert et al. (2001) found that one of these patients showed diploid/triploid mixoploidy (69,XXY/46,XY) on cytogenetic analysis of skin fibroblasts. The other patient reported by Lambert et al. (1999) and the original patient reported by Camera et al. (1993) were not available for karyotyping. Lambert et al. (2001) suggested that karyotyping of skin fibroblasts should be performed when the diagnosis of Camera-Marugo-Cohen syndrome is considered.