P

 

Proteus sendromu

Spontan

PTEN hamartoma tümör sendromu fenotipi

Makrosefali

Dolikosefali

Gözler iri

Strabismus

Ptozis

Yüz derisinde hemangiom (nevus flammeus)

Uzun yüz yapısı

Kafatası, yüz ve çene kemikleri kalın

Prognatizm

Vasküler malformasyonlar

Akciğer anomalileri

Akciğer kistleri

Deride verrüköz nevuslar

Deri lipomaları

Ekstremite iriliği (asimetrik aşırı gelişme)

Yerel gigantizm (el/ayak)

Asimetrik ekstremiteler

Eklemlerde hareketler kısıtlı

İskelet sistemi defektleri

Skolyoz

Kifoz

Yağ dokusu düzensizliği

Embriyonal tümör riski (Wilms tümörü)

Başkaca tümörler (lenfangioma, patotis adenomu, nöroblastoma, adrenal korteks ca, rabdomyosarkoma, ALL, tiroid ca, melanoma)

 

  • Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL, Cohen MM Jr. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. American Journal of Medical Genetics, 84(5):389-395, 1999

  • Cohen MM Jr. Overgrowth syndromes: an update. Advances in Pediatrics, 46:441–491, 1999

  • Cohen MM, Neri G, Weksberg R. Overgrowth Syndromes. Oxford University Press, New York, 2002

  • Cohen MM Jr, Turner JT, Biesecker LG. Proteus syndrome: misdiagnosis with PTEN mutations. American Journal of Medical Genetics A, 122A(4):323-324, 2003

  • Cohen MM Jr. Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 117C(1):49–56, 2003

  • Biesecker L. The challenges of Proteus syndrome: diagnosis and management. European Journal of Human Genetics, 14(11):1151-1157, 2006

  • Herman GE, Butter E, Enrile B, et al. Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. American Journal of Medical Genetics A, 143A:589–593, 2007

  • Lindhurst MJ, Sapp JC, Teer JK, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. New England Journal of Medicine, 365(7):611–619, 2011

  • Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clinical Cancer Research, 2012;18(2):400–407, 2012

  • Mester J, Eng C. When overgrowth bumps into cancer: the PTENopathies. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 163C(2): 114–121, 2013

  • Cohen MM Jr. Proteus syndrome review: molecular, clinical, and pathologic features. Clinical Genetics, 85(2):111–119, 2014

  • Edmondson AC, Kalish JM. Overgrowth Syndromes. Journal of Pediatric Genetics, 4:136–143, 2015