Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency
Journal of Korean Medical Science
;
: 74-77, 1994.
Article
Dans Anglais
| WPRIM
| ID: wpr-189267
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Dégénérescence de la rétine
/
Peptide C
/
Hormone de croissance
/
Atrophie optique
/
Syndrome de Cockayne
/
Troubles de la croissance
/
Hyperinsulinisme
/
Insuline
Limites du sujet:
Adolescent
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Journal of Korean Medical Science
Année:
1994
Type:
Article
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