An additional case of pachygyria, joint contractures and facial abnormalities.
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.
Levin
M L
ML
Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
Lupski
J R
JR
Carpenter
R J
RJ
Gerson
L P
LP
Greenberg
F
F
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