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Bannayan-Riley-Ruvalcaba sendromu

(Riley-Smith sendromu; Bannayan-Zonana sendromu)

Kalıtsal  - AD

PTEN hamartoma tumor sendromu fenotipi

Makrosomi (zamanla normale yaklaşma)

Makrosefali

Frontal kemik bombeli

Strabismus

Göz dibi patolojileri

Dilde papillomatöz oluşumlar

Çukur damak

Hamartomatöz intestinal polipozis

İleus

Rektal kanama

Büyük penis ve testisler

Glans peniste pigmente maküller

Süpernümerer meme uçları

Café-au-lait

Acanthosis nigricans

Vasküler malformasyonlar

Hashimoto tiroiditi

Skolyoz

Gevşek eklemler

Myopati bulguları (hipotoni)

Psikomotor gerilik

Epilepsi

Geç konuşma

Tümör riski (Malign: meme, tiroid, böbrek, endometrium); (Benign: lipomatozis, angiolipoma, hemangiolipoma, hamartomatöz polipler, hemangioma, meningioma)

Bkz Cowden sendromu

 

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  • Gould SJ, Raymond GV, Valle D. The peroxisome biogenesis disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8 ed., pp. 3181-3218, McGraw-Hill, New York, 2001

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

  • Lapunzina P. Risk of tumorigenesis in Overgrowth Syndromes: A comprehensive review. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 137C:53–71, 2005

  • Eng C. PTEN: one gene, many syndromes. Human Mutation, 22:183–198, 2003

  • Lynch NE, Lynch SA, McMenamin J, Webb D. Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. Archives of Diseases in Childhood, 94(7):553-554, 2009

  • 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

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