Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency.

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 abnormaliti...

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Detalles Bibliográficos
Autores principales: Park, S. K., Chang, S. H., Cho, S. B., Baek, H. S., Lee, D. Y.
Formato: Texto
Lenguaje:English
Publicado: Korean Academy of Medical Sciences 1994
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3053904/
https://www.ncbi.nlm.nih.gov/pubmed/8068222
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author Park, S. K.
Chang, S. H.
Cho, S. B.
Baek, H. S.
Lee, D. Y.
author_facet Park, S. K.
Chang, S. H.
Cho, S. B.
Baek, H. S.
Lee, D. Y.
author_sort Park, S. K.
collection PubMed
description 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.
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spelling pubmed-30539042011-03-15 Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency. Park, S. K. Chang, S. H. Cho, S. B. Baek, H. S. Lee, D. Y. J Korean Med Sci Research Article 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. Korean Academy of Medical Sciences 1994-02 /pmc/articles/PMC3053904/ /pubmed/8068222 Text en
spellingShingle Research Article
Park, S. K.
Chang, S. H.
Cho, S. B.
Baek, H. S.
Lee, D. Y.
Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency.
title Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency.
title_full Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency.
title_fullStr Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency.
title_full_unstemmed Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency.
title_short Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency.
title_sort cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency.
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3053904/
https://www.ncbi.nlm.nih.gov/pubmed/8068222
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AT chosb cockaynesyndromeacasewithhyperinsulinemiaandgrowthhormonedeficiency
AT baekhs cockaynesyndromeacasewithhyperinsulinemiaandgrowthhormonedeficiency
AT leedy cockaynesyndromeacasewithhyperinsulinemiaandgrowthhormonedeficiency

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