B

 

Beckwith-Wiedemann sendromu

Spontan (gen mutasyonu, %85); Kalıtsal (%15) - AD

Plasenta normalden %90 büyük-mezenkimal displazi

Polihidramnios

İnfant mortalitesi %20

Asimetrik makrosomi (hemihiperplazi/hemihipertrofi)

Natal hipoglisemi

Postnatal gigantizm

Hemihipertrofi

Adrenomegali (sürrenal korteks hücreleri iri)

Hipofizde amfofel hücre hiperplazisi

Böbrek anomalileri (nefromegali, medüller displazi, nefrokalsinoz, medüller kistik böbrek)

Pankreas hiperplazisi

Hipoglisemi

Hepatomegali

Fetüs adrenal korteks sitomegalisi

Kardiyovasküler anomaliler

Kardiyomyopati

Polisitemi

Artkafa kabarık

Alın derisi ve üst göz kapaklarında nevus flammeus

Ekzoftalmi ve infraorbital hipoplazi

Basık burun sırtı

Maksilla hipoplazisi (mikrognati)

Çukur damak

Makroglossi - konjenital (obstrüktif uyku apnesi)

Prognatizm

Maloklüzyon

Bağırsak anomalileri

Omfalosel (göbek fıtığı)

Ürogenital anomaliler

Polisitemi

Yüksek tümör riski (Malign tümörler: Wilms tümörü, hepatoblastoma, adrenal korteks ca, rabdomyosarkom, nöroblastoma, renal cell ca); (Benign tümörler: adrenal adenoma/kistleri, mesane papilloma/hamartomu, memenin fibroadenomu)

Kimi olgularda Pierre Robin sequence bulguları

Fenotip: Konjenital hemihipertrofi (hemihiperplazi)

Bkz Russel-Silver sendromu

 

  • Slavotinek A, Gaunt L, Donnai D. Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. Journal of Medical Genetics, 34(10):819–826, 1997

  • Pirinen S. Genetic craniofacial aberrations. Acta Odontologica Scandinavica, 1956:356-359, 1998

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

  • Rump P, Zeegers MP, van Essen AJ. Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis. American Journal of Medical Genetics A, 136(1):95-104, 2005

  • Cohen MM Jr. Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. Pediatric & Developmental Pathology, 8:287–304, 2005

  • Tan TY, Amor DJ. Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice. Journal of Paediatrics & Child Health, 42:486–490, 2006

  • Weksberg R, Shuman C, Beckwith JB. Beckwith–Wiedemann syndrome. European Journal of Human Genetics, 18(1):8-14, 2010

  • Choufani S, Shuman C, Weksberg R. Beckwith-Wiedemann syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 154C:343–354, 2010

  • Choufani S, Shuman C, Weksberg R. Molecular findings in Beckwith-Wiedemann syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 163C(2):131-140, 2013

  • Brioude F, Lacoste A, Netchine I, et al. Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to the molecular mechanism, and guidelines for tumor surveillance. Hormone Research in Paediatrics, 80(6):457–465, 2013

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

  • Mussa A, Di Candia S, Russo S, et al. Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome. European Journal of Medical Genetics, 59(1):52–64, 2016

  • Mussa A, Russo S, De Crescenzo A, et al. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.  European Journal of Human Genetics, 24(2):183–190, 2016

  • Zammit M, Caruana E, Cassar D, Calleja-Agius J. Beckwith-Wiedemann Syndrome Review: A Guide for the Natal Nurse. Natal Network, 36(3):129-133, 2017