Stickler sendromu
Kalıtsal Tip I ve II - AD; Tip V - AR
5 fenotip (tip 1 Stickler sendromu daha sık)
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Tip I (non-oküler) Stickler sendromu (OSMED): Göz bulgularının saptanmadığı fenotip
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Tip II ve V (oküler) Stickler sendromları: Göz anomalileri (retina dekolmanı, myopi, katarakt, glokom, körlük)
Tip III ve IV non-sendromik
Ortak bulgular
Ağır işitme sorunları
Burun sırtı hipoplazisi
Pierre Robin sequence bulguları
Yüz orta bölüm hipoplazisi
Filtrum uzun
Yüz asimetrik
Yüz yuvarlak-basık
Yanaklar küçük (hipoplazi)
Mikrognati
Retrognati
Yarık damak
Uvula bifida
Eklemler kalın/hipermobilite
Dejeneratif artrit
Vertebralarda displazi
Skolyoz
Bazı hastalarda marfanoid görünüm
Mitral kapak prolapsusu
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Snead MP, Yates JR. Clinical and molecular genetics of Stickler syndrome. Journal of Medical Genetics, 36:353–359, 1999
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Liberfarb RM, Levy HP, Rose PS, et al. The Stickler syndrome: genotype/ phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. Genetics in Medicine, 5:21–27, 2003
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Hoornaert KP, Vereecke I, Dewinter C, et al. Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients. European Journal of Human Genetics, 18(8):872-880, 2010
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Snead MP, McNinch AM, Poulson AV, et al. Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. Eye, 25(11):1389-1400, 2011
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Baker S, Booth C, Fillman C, et al. A loss of function mutation in the COL9A2 gene cause autosomal recessive Stickler syndrome. American Journal of Medical Genetics A, 155A: 1668-1672, 2011
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Tokgöz-Yilmaz S, Şahli S, Fitoz Set al. Audiological findings in otospondylomega-epiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2. International Journal of Pediatric Otorhinolaryngology, 75(3):433-437, 2011
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De Wergifosse I, Westhovens R. Osteoarthritis at young age, a diagnostic challenge: A case of Stickler Syndrome. Open Rheumatology Journal, 2014;8:100-102, 2012