title: [Increased nuchal translucency in osteogenesis imperfecta].
abstract: 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.
authors: Kennedy Centret, Genetisk Rådgivningsklinik, Gl. Landevej 6, 2600 Glostrup, Denmark. bsc@kennedy.dk
authors: Bitten
authors: B
authors: Schönewolf-Greulich
authors: Lillian
authors: L
authors: Skibsted
authors: Lisa Leth
authors: LL
authors: Maroun
authors: Allan Meldgaard
authors: AM
authors: Lund
authors: Karen
authors: K
authors: Brøndum-Nielsen
mesh_terms: D024042:Collagen Type I / Q000235:genetics; D005260:Female; D005865:Gestational Age; D006801:Humans; D048208:Nuchal Translucency Measurement; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D011247:Pregnancy
chemical_list: D024042:Collagen Type I