Diamond-Blackfan anemisi
Kalıtsal - AD
Aase-Smith sendromu tip 2
Anemi (normokromik-makrositik; bebek 3 aylıkken belirlenir)
Retikülositopeni
Gelişme geriliği
Boyun kısa
Boyun kalın
Mikrosefali
Yayvan burun sırtı
Hipertelorizm
Ptozis
Glokom
Katarakt
Strabismus
Kulak anomalileri
Mikrognati
Retrognati
Yarık dudak
Yarık damak
Üst ekstremite ve el anomalileri (A. radialis agenezi, parmak anomalileri)
Eklemlerde güçlü kontraktürler
Parmak eklem anomalileri (yumruk yapamama)
Vertebralarda hipoplazi
Kalça kemiklerinde dislokasyon
Klavikula agenezi (omuzlar dar)
Kalp-damar anomalileri (septum defektleri, aorta koarktasyonu)
Üriner sistem anomalileri (renal agenezis, atnalı böbrek)
Hidrosefalus (Dandy-Walker malformasyonu)
Myelodisplastik sendrom (lösemi ve osteosarkom riski)
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