Beckwith-Wiedemann sendromu

Spontan (gen mutasyonu, %85)

Kalıtsal olgu %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

 

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