INFANTILE CORTICAL HYPEROSTOSIS

INFANTILE CORTICAL HYPEROSTOSIS

Infantile cortical hyperostosis or Caffey disease is a rare genetic disorder caused by a mutation in the collagen 1 gene. The mechanism of the disease has not yet been fully elucidated, but the most important factor in the pathogenesis and the consequence of the mutation is periosteal inflammation. T...

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Bibliographic Details
Main Authors: Nika Morgan, Sara Bertok, Damjana Ključevšek, Karin Schara, Jana Lozar Krivec
Format: Article
Language:Slovenian
Published: The Society for Children with Metabolic Disorders 2021-06-01
Series:Slovenska pediatrija
Subjects:
caffey disease
collagen type 1
col1a1 gene mutation
newborn
bone disease
cortical hyperostosis
Online Access: http://www.slovenskapediatrija.si/Portals/0/Clanki/2021/Slovpediatr-2021-2-06en.pdf

Internet

http://www.slovenskapediatrija.si/Portals/0/Clanki/2021/Slovpediatr-2021-2-06en.pdf

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