A Case of Familial Stickler Syndrome in a Newborn with COL2A1 Gene Mutation.
10.14734/kjp.2014.25.2.100
- Author:
Ho Young KIM
1
;
Min Seon CHOI
;
Moon Woo SEONG
;
Sung Sup PARK
;
Sang Kee PARK
Author Information
1. Department of Pediatrics, College of Medicine, Chosun University Hospital, Gwangju, Korea. skpark@chosun.ac.kr
- Publication Type:Case Report
- Keywords:
Stickler syndrome;
COL2A1 Protein;
Mutation;
Newborn
- MeSH:
Collagen;
Connective Tissue;
Humans;
Infant, Newborn*
- From:Korean Journal of Perinatology
2014;25(2):100-104
- CountryRepublic of Korea
- Language:Korean
-
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.
