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

 

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

• Kelly TE, Alford BA, Abel M. Cervical spine anomalies and tumors in Weaver syndrome. American Journal of Medical Genetics, 95(5):492–495, 2000

• 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

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

• 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

• 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

• Basel-Vanagaite L. Acute lymphoblastic leukemia in Weaver syndrome. American Journal of Medical Genetics A, 152A: 383-386, 2010

• 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

• 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

• 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

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

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