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구개구순열을 동반한 골린증후군 - 증례보고

Gorlin syndrome with cleft lip and palate : a case report

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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.

ABSTRACT

Ⅰ. 서론

Ⅱ. 증례보고

Ⅲ. 고찰

Ⅳ. 결론

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