S

 

Stickler sendromu

Kalıtsal Tip I ve II - AD; Tip V - AR

5 fenotip (tip 1 Stickler sendromu daha sık)

  • Tip I (non-oküler) Stickler sendromu (OSMED): göz bulgularının saptanmadığı fenotip

  • 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

 

  • Snead MP, Yates JR. Clinical and molecular genetics of Stickler syndrome. Journal of Medical Genetics, 36:353–359, 1999

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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