Increased nuchal translucency in osteogenesis imperfecta].

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.

Citation

Bitten Schönewolf-Greulich, Lillian Skibsted, Lisa Leth Maroun, Allan Meldgaard Lund, Karen Brøndum-Nielsen. Increased nuchal translucency in osteogenesis imperfecta]. Ugeskrift for laeger. 2011 Mar 28;173(13):973-4

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PMID: 21453639

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