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Jaffe-Campanacci sendromu

Spontan - Gen mutasyonu

Deride pigmentasyon (café-au-lait)

Uzun kemiklerde non-ossifying fibromalar

Lezyon nedenli patolojik kırıklar

Çenelerde dev hücreli reparatif granülom

Hipogonadizm

Zeka geriliği

Az sayıda kalıtsal olgu: Nörofibromatozis tip 1 -AD

 

  • Kotzot D, Stöss H, Wagner H, Ulmer R. Jaffe-Campanacci syndrome: case report and review of literature. Clinical Dysmorphology, 3(4):328-334, 1994

  • Hau MA, Fox EJ, Cates JM, et al. Jaffe-Campanacci syndrome. A case report and review of the literature. Journal of Bone & Joint Surgery - American Volume, 2002;84-A:634–638, 2002

  • Mankin HJ, Trahan CA, Fondren G, Mankin CJ. Non-ossifying fibroma, fibrous cortical defect and Jaffe-Campanacci syndrome: a biologic and clinical review. La Chirurgia degli Organi di Movimento, 93(1):1-7, 2009

  • Stewart DR, Brems H, Gomes AG, et al. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. Genetics in Medicine, 16:448–459, 2014

  • Choi E mi, Jung N, Shim YJ, et al. Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report. Annals of Pediatric Endocrinology & Metabolism, 21(4):240-244, 2016