구개구순열을 동반한 골린증후군 - 증례보고

• 영문명: Gorlin syndrome with cleft lip and palate : a case report
• 발행기관: 대한구순구개열학회
• 저자명: 김구환 김동영 유명상 안강민
• 간행물 정보: 『대한구순구개열학회지』제19권 제2호, 11~18쪽, 전체 8쪽
• 주제분류: 의약학 > 일반외과학
• 파일형태: PDF
• 발행일자: 2016.12.31

영문 초록

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal-dominant disorder with complete penetrance. Multiple kerotocystic odontogenic tumors (KOTs) often make patients visit oral and maxillofacial surgery. Major criteria involve multiple basal cell carcinoma (BCC), KOTs, palmar or plantar pitting, lamella calcification of the falx cerebri, medulloblastoma and first degree relative with Gorlin syndrome. Cleft lip and palate is reported less than 15% in Gorlin syndrome. In this report, a 9-year-old boy who diagnosed with NBCCS was reviewed. He underwent cleft lip surgery at the age of 3 months. Cleft palate, medulloblastoma, multiple KOTs, BCC and were treated sequentially. Medical genetic analysis revealed heterozygote polymorphism in PTCH 1 gene.

목차

ABSTRACT

Ⅰ. 서론

Ⅱ. 증례보고

Ⅲ. 고찰

Ⅳ. 결론

참고문헌

키워드

Gorlin syndrome nevoid basal cell carcinoma syndrome cleft lip PTCH 1 gene