Cerebro-oculo-facio-skeletal syndrome: A case report / 소아과
Korean Journal of Pediatrics
;
: 435-438, 2008.
Article
in English
| WPRIM
| ID: wpr-200778
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Spinal Cord
/
Abnormalities, Multiple
/
Brain
/
Talus
/
Cleft Palate
/
Cockayne Syndrome
/
Growth and Development
/
DNA Repair
/
Extremities
/
Eye
Limits:
Humans
/
Infant
Language:
English
Journal:
Korean Journal of Pediatrics
Year:
2008
Type:
Article
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