İkizlerde Spondiloepifizyal Displazi Tarda

Year 2011, Volume: 9 Issue: 3, 97 - 99, 01.12.2011

Ferhat Çekmez Mustafa Özgür Pirgon İlhan Asya Tanju

Abstract

Giriş: Spondiloepifizyal displazi SED sıklıkla erken başlangıçlı osteoartrozis ile ilişkiligenetik heterojen bir bozukluktur. X-kromozomu bağımlı resesif formu erkeklerietkiler ve kısa boy, boyu geçen kulaç boyu ve fıçı göğüs deformitesi ile karakterizedir.Radyografik olarak, vertebral cisimlerin hörgüç benzeri deformitesi ve kalçaartrozunun erken belirtisi olan femur başının hafif epifizyel displazisi izlenir. Bubozukluk Xp22.12-p22.31 kromozomunun SEDL sedlin genindeki mutasyonlarsonucunda oluşur. Erken primer bilateral osteoartrozu olan erkeklerde SED ayırıcıtanıda mutlaka akıllarda olmalıdır.Olgu Sunumu: Yürümekle kalçada oluşan ağrı, uzun süre yürüyememe ve ayaktaduramama, aksayarak yürüme şikayetleri ile başvuran ve SED tanısı alan 11 yaşındakiikiz erkek kardeşler sunulmuştur.Tartışma: Kalça, bel ağrıları ve yürümede bozukluk şikayetleriyle başvuran hastalardanadir görülen bu iskelet displazileri düşünülmelidir

Keywords

Osteoartroz, spondiloepifizyal displazi tarda, perthes, ikiz

Spondyloepiphyseal Dysplasia Tarda in Twins

Abstract

Introduction: Spondyloepiphyseal dysplasia SED is a genetically heterogeneous disorder often associated with the early onset of osteoarthrosis. The X-linked recessiveform SEDL affects boys and is characterized by reduced height, arm span exceedingtotal height, and barrel chest deformity. The radiographic phenotype comprises a hump-shaped deformity of vertebral bodies and mild epiphyseal dysplasia of the femoralhead associated with early signs of hip arthrosis.The disorder is caused by mutations inthe SEDL or sedlin gene on Xp22.12-p22.31. SED should be kept in mind as a differentialdiagnosis in men with early “primary” bilateral osteoarthrosis.Case Report: Here, 11 years old twins diagnosed as SED due to walking disability,limitation of joint motion, pain at the hips and disability in standing for a long timewere presented. Discussion: This rare skelatal dysplasia must be kept in mind in patients with painful spineand hip joints, and walking disability

Keywords

Osteoarthrosis, spondyloepiphyseal dysplasia tarda, perthes, twins

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