EBP and X-linked dominant chondrodysplasia punctata: First described by Conradi in 1914 and fully delineated by Happle in the late 1970s, Conradi-Hünermann-Happle Syndrome (X-linked dominant chondrodysplasia punctata, CDPX2, OMIM 302,960) [10] is a rare inherited X-linked dominant variant of chondrodysplasia punctata, a heterogeneous group of rare bone dysplasias [11, 12].