W

 

Winchester sendromu

Spontan (çok ender)

Gelişme geriliği

Brakisefali

Korneada opaklaşma

Kraniyofasiyal asimetri

Yüz derisi kalın

Gingival fibromatozis

Uzun kemiklerde yapısal bozukluklar

Yaygın osteoporoz

Kemiklerde erime alanları

Kifoskolyoz

Diz eklem anomalileri

Bilek ve dirsek hareketleri ağrılı

Yürümede güçlük

Deride kalınlaşma

Hiperpigmentasyon

Hipertrikoz

 

  • Prapanpoch S, Jorgenson RJ, Langlais RP, Nummikoski PV. Winchester syndrome. A case report and literature review. Oral Surgery, Oral Medicine, Oral Pathology, 74(5):671-677, 1992

  • Matthiesen G, Faurholt Pedersen V, Helin P, et al. Winchester syndrome. International Orthopaedics, 25(5):331-333, 2001

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

  • Evans BR, Mosig RA, Lobl M, et al. Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. American Journal of Human Genetics, 91(3):572-576, 2012

  • Ekbote AV, Danda S, Zankl A, et al. Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature. Journal of Clinical Research in Pediatric Endocrinology,  6(1):40-46, 2014