Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency
Journal of Korean Medical Science
; : 74-77, 1994.
Article
in En
| WPRIM
| ID: wpr-189267
Responsible library:
WPRO
ABSTRACT
Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, deafness, skeletal and neurologic abnormalities. We describe here an 18 year old boy with Cockayne syndrome who had, in addition to the typical features of the disorder, fasting hyperinsulinemia and growth hormone deficiency.
Full text:
1
Index:
WPRIM
Main subject:
Retinal Degeneration
/
C-Peptide
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Growth Hormone
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Optic Atrophy
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Cockayne Syndrome
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Growth Disorders
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Hyperinsulinism
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Insulin
Limits:
Adolescent
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Humans
/
Male
Language:
En
Journal:
Journal of Korean Medical Science
Year:
1994
Type:
Article