| Popis: |
Two previous case reports have described an apparently new lethal syndrome consisting of pachygyria, joint contractures and facial abnormalities (Winter et al., 1989; Tsukahara et al., 1990). Another report describes a non-lethal case in which dysmorphic features were not noted (Massa et al., 1988). We now report on what appears to be an additional lethal case. This male infant had a lethal condition with features of large fontanelle, pachygyria with incomplete opercularization, varus contractures of the hands and feet, small palpebral fissures, hypertelorism, a small penis, cryptorchidism, camptodactyly and a sandal gap deformity. These cases appear to represent a new lethal lissencephaly syndrome associated with arthrogryposis and facial dysmorphism, which we propose to call the Winter-Tsukahara syndrome. |
