|
KMID : 0361720140250020100
|
|
Korean Journal of perinatology
2014 Volume.25 No. 2 p.100 ~ p.104
|
|
|
A Case of Familial Stickler Syndrome in a Newborn with COL2A1 Gene Mutation
|
|
Kim Ho-Young
Choi Min-Seon
Seong Moon-Woo
Park Sung-Sup
Park Sang-Kee
|
|
|
Abstract
|
|
|
|
Stickler syndrome is a progressive, hereditary disorder of connective tissue caused by mutations in different collagen genes. It is characterized by distinctive ocular, auditory, skeletal and oro-facial abnormalities and associated with long-term respiratory, nutritional, and developmental difficulties. Therefore, early detection and early treatment of Stickler syndrome is very important. We reported a case of Stickler syndrome in a newborn with family history and COL2A1 gene mutation.
|
|
|
KEYWORD
|
|
|
Stickler syndrome, COL2A1 Protein, Mutation, Newborn
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|