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Gorlin sendromu (basal cell nevi; nevoid basal cell carcinoma; Gorlin-Goltz sendromu)

Kalıtsal - AD

Makrosefali

Falx cerebri lamellar kalsifikasyonu (20 yaş öncesi)

Frontal ve temporal kemikler çıkıntılı (pagetoid)

Geniş burun sırtı

Geniş paranazal sinüsler

Mikroftalmi

Çenelerde multipl keratokistik odontojen tümörler

Deride multipl bazal hücreli karsinomlar (BHC) - 20 yaşından küçüklerde tek tümör yeterli

Yarık dudak

Yarık damak

Prognatizm

Tümör eğilimi: ovaryum ve uterus fibromları, çenelerde ameloblastoma ve fibrosarkom, çocuklarda medulloblastom

Deride küçük kireçlenmeler

Avuçiçi ve tabanda diskeratoz ve çukurlar

Vertebralarda kaynaşma

Spina bifida

Kifoskolyoz

Polidaktili

Görece ender bulgular: hipertelorizm, mikroftalmi, katarakt, retina anomalileri, kalp anomalileri, ovaryum anomalileri, mezenter kistleri, plevral kistler

 

  • Kimonis VE, Mehta SG, Digiovanna JJ, et al. Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genetics in Medicine, 6:495–502, 2004

  • Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome. Genetics in Medicine, 6:530-539, 2004

  • High A, Zedan W. Basal cell nevus syndrome. Current Opinion in Oncology, 17(2): 160-166, 2005

  • Bree AF, Shah MR, BCNS Colloquium Group. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). American Journal of Medical Genetics A, 155A:2091–2097, 2011

  • Garavelli L, Piemontese MR, Cavazza A, et al. Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci. American Journal of Medical Genetics A, 161A(11): 2894–2901, 2013

  • Kimonis VE, Singh KE, Zhong Ret al. Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. Genetics in Medicine, 15: 79-83, 2013

  • Yaşar B, Byers HJ, Smith MJ, Lear J, Oudit D, Bholah Z, Roberts SA, Newman WG, Evans DG. Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome. European Journal of Human Genetics, 23:708–710, 2015

  • Hubacek M, Kripnerova T, Nemcikova M, et al. Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis. Neuroendocrinology Letters, 37(4):269-276, 2016

  • Thomas N, Vinod SV, George A, Varghese A. Gorlin-Goltz syndrome: An often missed diagnosis. Annals of Maxillofacial Surgery, 6(1):120-124, 2016

  • Bresler SC, Padwa BL, Granter SR. Nevoid basal cell carcinoma syndrome (Gorlin Syndrome). Head & Neck Pathology, 10(2): 119–124, 2016