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Mukopolisakkaridozis sendromları: Maroteaux-Lamy sendromu (MSP VI, Toulouse Leutrec sendromu)
Kalıtsal metabolik hastalık
Yoğun mukopolisakkaridüri
Gelişme geriliği
Tüm kemiklerde osteopetrozis ve kırıklar
Kranyumda hiperostoz
Makrosefali (hidrosefalus)
Frontal ve oksipital kemikler kabarık
Oksipital kemikte defektler
Kranyum suturaları açık
6 yaşlarında kaş/saç yoğunlaşması
Yüz elemanları kaba
Hipertelorizm
Burun yayvan-delikleri geniş
Paranazal sinüslerde hipoplazi/agenezis
İnfeksiyonlar (kronik otitis media, üst solunım yolları)
Görme sorunları
Dudaklar kalın
Mandibula angulus hipoplazisi
Mandibula kondili hipoplazisi
Çukur damak
Prognatizm
Dişlerde gelişme aksamaları
Dişlerde sürme aksamaları
Gömük dişler (kimisi süpernümerer)
Hipodonti
Molar dişler çevresinde litik alanlar
Maloklüzyon
Periodontal patolojiler
Makroglossi
Klavikulanın akromion çıkıntısında hipoplazi
Kifoz
İnguinal herni
Hepatosplenomegali
Kalp kapak anomalileri
El-ayak parmaklarının eksikliği
Parmaklarda parestezi
İşitme sorunları
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Ahmed A, Rudser K, Kunin-Batson A, et al. Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, reliability, and validity. JIMD Reports, 26: 61-68, 2016