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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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