M

 

Mukopolisakkaridozis sendromları: Morquio sendromu (MPS IV; Morquio-Silfverskiöld sendromu; Morquio-Brailsford sendromu; Morquio-Ullrich sendromu)

Kalıtsal

Lizozomal enzim eksikliği

İskelet sisteminde yaygın deformasyonlar

Gelişme geriliği (gövde kısalığı)

Boyun kısa

Makrosefali

10 yaşından sonra kornea bulanıklığı

Glokom ve katarakt

Puberteyle ağırlaşan İşitme sorunları

Zigomatik kemikler kabarık

Burun küçük

Ağız geniş

Üstçene prognatizmi

Diastemalar

Dişlerde malformasyon

Mine hipoplazisi

Çürükler

Ekstremiteler görece uzun

Eklemler gevşek

Osteoporoz

Bilekler kalın

Fıçı toraks

Kifoskolyoz

Servikal myelopati

İnguinal fıtık

İdrarda keratosülfat artışı

  • Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the Head and Neck. 4th ed., Oxford University Press, New York, 2001

  • 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

  • Froissart R, Da Silva IM, Maire I. Mucopolysaccharidosis type II: an update on mutation spectrum. Acta Paediatrica, Suppl.96:71-77, 2007

  • Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics. Annual Review of Genomics and Human Genetics, 9:359-386, 2008

  • Garrido E, Cormand B, Hopwood JJ, et al. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Molecular Genetics & Metabolism, 94(3):305-312, 2008

  • Thomas JA, Beck M, Clarke JTR, Cox GF. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. The Journal of Inherited Metabolic Disease, 33(4): 421-427, 2010

  • Malm G, Månsson JE. Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period. Acta Paediatrica, 99(8):1253-1257, 2010

  • Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011

  • Sampaio I, Marques JG. Periodic fever with aphthous stomatitis, pharyngitis and adenitis: report of 21 cases. Acta Médica Portuguesa, 24(1):37-42, 2011

  • D’Aco K, Underhill L, Rangachari L, et al. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. European Journal of Pediatrics, 171(6): 911-919, 2012

  • Kayserili H, Kantaputra PN. Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient. American Journal of Medical Genetics, 158A:1798–1800, 2012

  • 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

  • Tylki-Szymańska A. Mucopolysaccharidosis type II, Hunter's syndrome. Pediatric Endocrinology Reviews, 12 Suppl 1:107-113, 2014

  • 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