title: An additional case of pachygyria, joint contractures and facial abnormalities.
abstract: 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.
authors.affiliation: Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
authors.forename: M L
authors.initials: ML
authors.lastname: Levin
authors.forename: J R
authors.initials: JR
authors.lastname: Lupski
authors.forename: R J
authors.initials: RJ
authors.lastname: Carpenter
authors.forename: L P
authors.initials: LP
authors.lastname: Gerson
authors.forename: F
authors.initials: F
authors.lastname: Greenberg
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003286:Contracture / Q000151:congenital*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007596:Joints / Q000002:abnormalities*; D008297:Male; D014057:Tomography, X-Ray Computed