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Mukopolisakkaridozis sendromları: Hurler sendromu (Gargoylism, MPS I-H, Hunter-Hurler, Hurler-Pfaundler, dysostosis multiplex)

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Gelişme geriliği

Boyun kısa

Makrosefali

Kafa tabanı kemikleri kalın

Sella turcica nal biçiminde

Hidrosefalus

Toraks ve kosta malformasyonları

Ağır göz kapakları

Kornea bulanıklığı

Burun basık

Yüzde kıllanma

Nazolabial oluk belirgin

Dudaklar kalın

Ağız açık

Makroglossi

Mikrognati (kısa-yayvan altçene)

Temporomandibular eklemde kondil anomalileri

Dişlerde sürme aksamaları

Maloklüzyon

Ön bölgede diastemalar

Kök anomalileri

Dişlerde kuron aşınmaları

Dentigeröz kist izlenimi veren oluşumlar

Gingivitis

Gingival hiperplazi

Akut kardiyomyopati

Pulmoner hipertansiyon

Pnömoni atakları

Kıkırdak, kornea ve tendon bağ dokuları yapısı bozuk

Gar­goyle hücreleri (beyin, hipofiz, karaciğer, dalak, lenf düğümleri, kalp)

Hepatosplenomegali

İnguinal herniler

İdrarda bol kondroitin sülfat B ve heparin sülfat

Zeka geriliği

 

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  • Azevedo AC, Schwartz IV, Kalakun L, et al. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clinical Genetics, 66(3):208-213, 2004

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  • Burton BK, Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. European Journal of Pediatrics, 171(4): 631-639, 2012

  • Giugliani R, Villarreal MLS, Valdez CAA, et al. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. Genetics & Molecular Biology, 37(2): 315-329, 2014

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  • Bodamer OA, Giugliani R, Wood T. The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. Molecular Genetics & Metabolism, 113(1-2):34-41, 2014

  • Vairo F, Federhen A, Baldo G, et al. Diagnostic and treatment strategies in mucopolysaccharidosis VI. The Application of Clinical Genetics, 8: 245–255, 2015

  • Fedele AO. Sanfilippo syndrome: causes, consequences, and treatments. The Application of Clinical Genetics, 8: 269-281, 2015

  • Hendriksz CJ, Berger KI, Giugliani R, et al. International Guidelines for the Management and Treatment of Morquio A Syndrome. American Journal of Medical Genetics A, 167(1): 11-25, 2015

  • Ahmed A, Rudser K, Kunin-Batson A, et al. Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, reliability, and validity. JIMD Reports, 26: 61-68, 2016