Weaver sendromu
Weaver-Smith sendromu
Kalıtsal - AD/Spontan
Pre/postnatal hızlı büyüme (makrosomi)
Hızlı kemik gelişimi
Makrosefali
Artkafa düz
Alın bombesi yüksek/geniş
Hipertelorizm
Strabismus
Kulaklarda biçim anomalileri
Burun sırtı yayvan
Filtrum uzun
Retrognati
Kalpte septum defektleri
Yumuşak-gevşek-kıvrımlı deri
Kifoskolyoz
Distal ekstremiteler kalın-uzun
Eller büyük
Deforme ayaklar
Parmak anomalileri
Tırnaklarda hipoplazi
Beyin anomalileri: beyin küçük, septum pellucidum kistleri
Zeka geriliği
Epilepsi
Davranış bozuklukları
Tümör riski: nöroblastoma, teratoma, ALL, lenfoma
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Cohen MM Jr. Overgrowth syndromes: an update. Advances in Pediatrics, 46:441–491, 1999
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Kelly TE, Alford BA, Abel M. Cervical spine anomalies and tumors in Weaver syndrome. American Journal of Medical Genetics, 95(5):492–495, 2000
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Huffman C, McCandless D, Jasty R, et al. Weaver syndrome with neuroblastoma and cardiovascular anomalies. American Journal of Medical Genetics, 99(3):252–255, 2001
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Cohen MM, Neri G, Weksberg R. Overgrowth Syndromes. Oxford University Press, New York, 2002
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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
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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
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Basel-Vanagaite L. Acute lymphoblastic leukemia in Weaver syndrome. American Journal of Medical Genetics A, 152A: 383-386, 2010
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Tatton-Brown K, Hanks S, Ruark E, et al; Childhood Overgrowth Collaboration. Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. Oncotarget, 2(12):1127–1133, 2011
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Tatton-Brown K, Murray A, Hanks S, et al; Childhood Overgrowth Consortium. Weaver syndrome and EZH2 mutations: clarifying the clinical phenotype. American Journal of Medical Genetics A, 161A(12): 2972–2980, 2013
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Al-Salem A, Alshammari MJ, Hassan H, et al. Weaver syndrome and defective cortical development: a rare association. American Journal of Medical Genetics A, 161A(1):225-227, 2013
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Edmondson AC, Kalish JM. Overgrowth Syndromes. Journal of Pediatric Genetics, 4:136–143, 2015