An additional case of pachygyria, joint contractures and facial abnormalities.
Clin Dysmorphol
; 2(4): 365-8, 1993 Oct.
Article
en En
| MEDLINE
| ID: mdl-8305968
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
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Encéfalo
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Contractura
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Cara
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Articulaciones
Límite:
Adult
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Female
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Humans
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Male
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Newborn
Idioma:
En
Revista:
Clin Dysmorphol
Asunto de la revista:
TERATOLOGIA
Año:
1993
Tipo del documento:
Article
Pais de publicación:
Reino Unido