Korean Journal of Pediatrics 2007;50(8):789-793.
Published online August 15, 2007.
Basal cell nevus syndrome (gorlin syndrome) confirmed by PTCH mutations and deletions
Hee Moon Kim, Chul Hee Lee, Sung Koo Kim, Tae Jung Sung
Department of Pediatrics, Kangnam Sacred Heart Hospital, College of Medicine, Hallym University, Seoul, Korea
PTCH 유전자 검사로 확진된 기저세포 모반 증후군 1례
김희문, 이철희, 김성구, 성태정
한림대학교 의과대학 소아과학교실
Tae Jung Sung, Email: neosung@hallym.or.kr
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder characterized by variable manifestations, including multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We report a case of a 9-year-old boy with the clinical features of basal cell nevus syndrome, in which a PTCH gene mutation was confirmed by DNA testing.
Key Words: Basal cell nevus syndrome, Odontogenic keratocyst, PTCH mutation

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