Cerebro-oculo-facio-skeletal syndrome: A case report / 소아과
Korean Journal of Pediatrics
; : 435-438, 2008.
Article
em En
| WPRIM
| ID: wpr-200778
Biblioteca responsável:
WPRO
ABSTRACT
The Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder characterized by multiple abnormalities that involve the brain, face, eyes, and extremities. COFS syndrome is regarded as a degenerative disorder of the brain and spinal cord caused by a mutation of the DNA repair genes. We report on an 8-month-old girl with COFS syndrome who exhibited growth and developmental delay, hypotonia, microcephaly, nystagmus, cleft palate, widely separated nipples, inguinal hernia, camptodactyly, and rocker-bottom feet with vertical talus.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Medula Espinal
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Anormalidades Múltiplas
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Encéfalo
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Tálus
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Fissura Palatina
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Síndrome de Cockayne
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Crescimento e Desenvolvimento
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Reparo do DNA
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Extremidades
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Olho
Limite:
Humans
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Infant
Idioma:
En
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2008
Tipo de documento:
Article