Kedi ağlaması (cri du chat) sendromu

Spontan

Bebeklerde kedi miyavlaması gibi ağlama sesi

Mikrosefali

Yayvan burun kökü

Hipertelorizm

Göz bulguları (optik atrofi, strbismus, epikantus)

Epikantus

Yuvarlak yüz

Yüzde asimetri

Mikrognati

Retrognati

Maloklüzyon

Open-bite

Mine defektleri

Dişlerde sürme aksamaları

Periodontitis

Saçlarda erken beyazlanma

Psikomotor gerilik

Hipotoni

İskelet anomalileri (sindaktili, eller küçük)

Konjenital kalp ve böbrek anomalileri

İnfeksiyonlar (üst solunum yolları ve kulak)

Hipotoni (zamanla hipertoni)

İnmemiş testis

 

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