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A Case of Familial Stickler Syndrome in a Newborn with COL2A1 Gene Mutation
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Abstract
ÀúÀÚµéÀº Stickler syndromeÀÇ °¡Á··ÂÀÌ ÀÖ´Â °¡°è¿¡¼ Ãâ»ýÇÏ¿© ¾ç¾È °Ý¸®, ÆíÆòÇÑ ÄÚ, ¼ÒÇϾÇÁõ, ¼³Çϼö, ±¸°³¿À» µ¿¹ÝÇÏ°í ÀÌ·Î ÀÎÇØ È£Èí°ï¶õ ¹× ¼öÀ¯°ï¶õÀ» È£¼ÒÇÏ¿´À¸¸ç ±Ù½Ã¿Í °¨°¢½Å°æ¼º ³Ã»ÀÌ ÀÖ¾ú´ø ¿©¾Æ¿¡¼ COL2A1 À¯ÀüÀÚÀÇ µ¹¿¬º¯À̸¦ ½Å»ý¾Æ ½Ã±â¿¡ Á¶±â ¹ß°ßÇÏ¿© Stickler ÁõÈıºÀ¸·Î Áø´Ü ÈÄ ÇöÀç ÃßÀû°üÂû ÁßÀÎ Áõ·Ê¸¦ °æÇèÇÏ¿´±â¿¡ ¹®Çå°íÂû°ú ÇÔ²² º¸°íÇÏ´Â ¹ÙÀÌ´Ù.
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.
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Stickler ÁõÈıº, COL2A1 ´Ü¹é, µ¹¿¬º¯ÀÌ, ½Å»ý¾Æ
Stickler syndrome, COL2A1 Protein, Mutation, Newborn
KMID :
0361720140250020100
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