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)
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