Camptomelic Syndrome, Long-Limb Type
Khajavi et al. (1976) recognized three varieties of campomelic syndrome: (1) the long-limb form, in which the bent bones are of normal width and only slightly shortened and the arms are rarely involved; (2) the short-limbed form, in which the bent bones are short and wide; and (3) a short-limbed form with associated cloverleaf skull deformity ('Kleeblattschaedel'). Both the long-bone and the short-bone forms may be recessive. Krous et al. (1979) raised the question of intrauterine viral infection in 2 infants with campomelia. Both showed hydrocephalus and hydromyelia and the placenta in one showed focal proliferative villitis. Mellows et al. (1980) described XX female sibs with camptomelic syndrome of the long-limbed variety. Both infants died soon after birth. Fryns et al. (1981) achieved prenatal diagnosis by ultrasonography in a woman who had delivered an infant with presumed camptomelic dwarfism (although no diagnostic studies were performed and the infant lived only a few minutes). In the second pregnancy, the affected fetus had hydrocephalus as well. Spranger (1981) questioned the existence of separate long bone and short bone types.