BGLAP and Cowden syndrome 1: In this paper, we describe a sporadic male proband affected by complex CS, composed of metopic and lambdoid synostosis, muscular hypotonia, psychomotor retardation, and facial dysmorphism, resulting from a previously unreported de novo 1.26 Mb duplication at chromosome 1q22-q23.1, encompassing two genes involved in osteoblastogenesis: BGLAP encoding osteocalcin (OCN) and LMNA encoding lamin A/C.