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KMID : 0952820160190020011
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Journal of Korean Cleft Lip & Palate Association
2016 Volume.19 No. 2 p.11 ~ p.18
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Gorlin syndrome with cleft lip and palate : a case report
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Kim Gu-Hwan
Kim Dong-Young
You Myoung-Sang
Ahn Kang-Min
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Abstract
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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.
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KEYWORD
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Gorlin syndrome, nevoid basal cell carcinoma syndrome, cleft lip, PTCH 1 gene
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