SPONDİLO EPİFİZER DİSPLAZİ KONJENİTA: NADİR BİR İSKELET DİSPLAZİSİ

Öz

Otozomal dominant kalıtılan bir kondrodisplazi olan spondilo epifizer displazi konjenita, tip 2 prokollajen alfa1 zinciri, proalfa1 (II)' yi kodlayan COL2A1 genindeki mutasyona bağlı olarak ortaya çıkar. Doğumdan itibaren boy kısalığı bulunan olgularda, daha belirgin olarak omurga ve uzun kemiklerin epifizleri tutulur. Spondilo epifizer displazi konjenita nadir rastlanan bir iskelet displazisi olduğundan, vertebra manyetik rezonans görüntülemede skolyoz ve arkus füzyon defekti saptanan ve spondilo epifizer displazi konjenita tanısı olan 12 yaşındaki erkek olgu sunulmuştur.

Anahtar Kelimeler

• Spondilo epifizer displazi konjenita, skolyoz, arkus füzyon defekti

SPONDYLOEPİPHYSEAL DYSPLASİA CONGENİTA: A RARE SKELETAL DYSPLASİA

Öz

Spondyloepiphyseal dysplasia congenita, is an autosomal dominantly inherited chondrodysplasia, which occur due to a mutation in the COL2A1 gene encoding the type 2 procollagen alpha1 chain, proalpha1 (II). This disorder demonstrates short stature since birth and displays markedly involvement of the spine and the epiphyses of long bones. We presenteda 12 year-old boy who was diagnosed as spondyloepiphyseal dysplasic congenita due to typical findings of scoliosis and arcus fusion defects on vertebral magnetic resonance imaging because of the rarity of this skeletal dysplasia

Anahtar Kelimeler

• Spondyloepiphyseal dysplasia congenita, scoliosis, arcus fusion defect

Kaynakça

1. Sellick GS, Hoornaert KP, Mortier GR, King C, Dolling CL, Anderson CE, Sillence DO, Lachman RS, Toomy K, Bull M, Dorst J,Rimoin DL. Spodylometepiphyseal dysplasia, Strudwick type. Am J Hamidi-Toosi S, Maumenee IH. Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenita. Arch Ophthalmol 1982; :1104-1107.
2. Dahiya R, Cleveland S, Megerian CA. Spondyloepiphyseal dysplasia congenita associated with conductive hearing loss. Ear Nose Throat J ;79:178-182.