Sılver - Russell Syndrome Clınıc Fındıngs And Herıtage

Year 1992, Volume: 45 Issue: 2, 305 - 314, 30.06.1992

Cüneyt Tüzün

Abstract

In this study, three cases are described with Silver-Russell syndrome. The cases are compared with a group of 100 patients with SilverRussell syndrome reported before. One of our cases had an additional findings of pilonidal sinus which is not reported before. The presence of relatives with severe short stature of three patients strongly indi cates an autosomal dominant inheritance, showing incomplete penetrance and variant expressivity. We suggest that longitudinal study of the families may clearify the act of penetrance and expressivity of the gene

Keywords

Silver-Russell syndrome , growth retardation: lete penetranco , variant expressivity

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Silver - Russell Sendromu : Klinik Bulgular Ve Kalıtımı

Abstract

Bu makalede üç Silver-Russe11 sendromlu olgu sunulmaktadır. Olgular daha evvel yayınlanmış 1 CO Silver-Russell sendromlu hastadan oluşturulmuş bir grup ile karşılaştırılmıştır. Olguların birinde ek olarak tanımlanan pilonidal sinus, sendrom için daha önce bildi rilmemiştir. Hastaların üçününde ailesinde ileri derecede kısa boylu bir bireyin olması, sporadik görülen sendromun, değişken ekspresyonlu, eksik penetrans gösteren otozomal dominant bir genle kalltlldlžl düsüncesine agrllk kazandlrmaktadlr. Ailelerin izlenmesiyle yeni ge nerasyonlardaki penetrans ve ekspresivite özelliži daha belirgin Olarak ortaya konulabilir

Keywords

Silver Russell sendromu , glelisme geriliži , in komple penetrans , variant expressivite

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References

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