Abstract
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.
References
- 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.
- Dahiya R, Cleveland S, Megerian CA. Spondyloepiphyseal dysplasia congenita associated with conductive hearing loss. Ear Nose Throat J ;79:178-182.
Abstract
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
References
- 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.
- Dahiya R, Cleveland S, Megerian CA. Spondyloepiphyseal dysplasia congenita associated with conductive hearing loss. Ear Nose Throat J ;79:178-182.
Details
| Other ID | JA86FK44YN |
|---|---|
| Journal Section | Research Article |
| Authors | |
| Publication Date | August 1, 2008 |
| Submission Date | August 1, 2008 |
| Published in Issue | Year 2008 Volume: 2 Issue: 1 |
The publication language of Turkish Journal of Pediatric Disease is English.
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