Schönewolf-Greulich Bitten, Skibsted Lillian, Maroun Lisa Leth, Lund Allan Meldgaard, Brøndum-Nielsen Karen
Kennedy Centret, Genetisk Rådgivningsklinik, Gl. Landevej 6, 2600 Glostrup, Denmark.
Ugeskr Laeger. 2011 Mar 28;173(13):973-4.
A limited number of reports published since 2001 have described an association between increased nuchal translucency (NT) and osteogenesis imperfecta (OI). We report a new case which underlines the frequency of this association as well as the importance of follow-up and genetic evaluation. In the present case, ultrasound scanning at 13 weeks of gestation showed a NT of 3.2 mm and no other pathological findings. At 20 weeks a severe skeletal dysplasia was diagnosed by ultrasound. The pathology report of the aborted foetus indicated OI, and DNA analysis confirmed a COL1A1 mutation.
自2001年以来发表的少数报告描述了颈部半透明层（NT）增厚与成骨不全（OI）之间的关联。我们报告了一个新病例，该病例强调了这种关联的频率以及随访和基因评估的重要性。在本病例中，妊娠13周时的超声扫描显示NT为3.2毫米，无其他病理发现。妊娠20周时，超声诊断为严重骨骼发育不良。流产胎儿的病理报告显示为OI，DNA分析证实存在COL1A1突变。
