A Case of Cockayne Syndrome / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 118-124, 1998.
Artigo
em Coreano
| WPRIM
| ID: wpr-16800
ABSTRACT
Cockayne syndrome is a rare autosomal recessive disorder that results in postnatal growth failure and progressive neurological dysfunction. Associated clinical features are gait disturbance, progressive pigmentary retinopathy and other ocular anomalies such as cataracts and optic disk atrophy, sensorineural hearing loss, dental caries and cutaneous photosensitivity. The disease is clinically heterogeneous with a wide range in the type and severity of symptoms. We experienced a case of Cockayne syndrome in 13 year-old male, who had delayed development, hypophasia, characteristic physical appearance, cutaneous photosensitivity, dental caries. We reported the case with review of literatures.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Disco Óptico
/
Atrofia
/
Catarata
/
Retinose Pigmentar
/
Síndrome de Cockayne
/
Cárie Dentária
/
Marcha
/
Perda Auditiva Neurossensorial
Limite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
1998
Tipo de documento:
Artigo
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