Blepharoptosis, Ptosis, Syndactyly, and Mental Retardation (Camera-Marugo-Cohen Syndrome): Characterized by blepharoptosis, truncal obesity, syndactyly, camptodactyly, retrognathia, mental retardation, body asymmetry, and muscle weakness.
It has been found that one of these patients showed diploid/triploid mixoploidy (69,XXY/46,XY) on cytogenetic analysis of skin fibroblasts. Karyotyping of skin fibroblasts should be
performed when the diagnosis of Camera-Marugo-Cohen syndrome is considered.